Kidney Defects in Mutant Animals

This table is part of the Kidney Development Database. It concentrates on kidney defects which are 'developmental' in character and is not intended to include later pathologies created through primary lesions in other systems (for example, mutations that unbalance the immune system and create glomerulonephritic kidney damage are not included).

Click here to see zebrafish mutants.
 
 
 

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|           | Mutant type | Phenotype             | Reference  (1st author)     |
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| Angiotensin      | transgenic  | cortical thinning and | Krege 1995                   |
|  converting      |             | focal atrophy in      |
|   enzyme         |             | adulthood             |
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| Angiotensinogen  | transgenic  | vessel walls thicken  | Kim 1995                   |
|                  |             | during post-natal     |
|                  |             | development           |
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| AP-2             | transgenic  | hypoplastic, retarded | Zhang 1996                   |
|                  |             | development of meta-  |
|                  |             | nephros (& many other |
|                  |             | defects in embryo)    | 
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| Bcl-2 -/-        | transgenic  | polycystic disease    | Veis 1993                   |
|                  |             | hypoplasia due to     | Nagata 1996
|                  |             | excess apoptosis      |
|                  |             | during abnormal       |
|                  |             | neprhogenesis         |  
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| BF-2             | transgenic  | hypoplastic, fused,   | Hatini 1996                   |
|                  |             | c.d. small, too few   |
|                  |             | nephrons,large mesen- |
|                  |             | chymal condenates     | 
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| BMP4 +/-         | transgenic  | polycystic            | Dunn 1997                   |
|                  |             | during post-natal     |
|                  |             | development           |
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| BMP-7            | transgenic-1|1 severe kid hypoplasia| Dudley 1995 
|                  |             | (lethal): early devt  | Luo 1995
|                  |             | OK (->E12.5), but then|
|                  |             | few nephrons form and |   
|                  |             | cd branching ceases   |  
|                  |             | (according to Dudley &|
|                  |             |  Luo papers).         |
|                  | transgenic-2|2 adequate glomerulo-  | Jena 1997
|                  |             |  genesis, well-formed |
|                  |             |  proximal tubule but  |
|                  |             |  poor distal tubules, |
|                  |             |  polycystic.          | 
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| Collagen II      | transgenic  | minor defects         | Li 1995                   |
|   alpha 1        |             |                       |
|                  |             |                       |
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| Collagen IV      | transgenic  | Alport's syndrome     | Cosgrove 1996                   |
|   alpha 3        |             |                       |
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| Cox-2            | transgenic  | poor bud development  | Dinchuk 1995 
| (cyclooxygenase) |             | apparent by birth     |
|                  |             | nephrons few and      |
|                  |             | immature              |   
|                  |             | (E14 kidneys look OK  |  
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| Emx-2            | transgenic  | absence of metanephroi| Pellegrini 1996                   |
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| Epstein-Barr     | transgenic  | tubular hyperplasia   | Tornell 1996                |
| nuclear Antigen 2|             | then neoplasia        |                             |
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| Fu (Fused)       | random      | variable failure of   | Theiler 1956                |
|                  |             | ureteric bud growth   |                             |
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| FGF-7 (=KGF)     | transgenic  | hyperplastic, cystic  | Nguyen et al 1996           |             
|  overexpression  |             | renal collecting      |                             |
|  targeted to     |             | duct system.          |                             |
|  liver (not kid) |             |                       |                             |
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| FGF-7 knockout   | transgenic  | kidneys smaller than  | Qiao et al 1999             |             
|                  |             | +/+ wrt both coll     |                             |
|                  |             | duct system size and  |                             |
|                  |             | neprhon number        |                             |
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| GDNF             | transgenic  | renal agenesis due    | Sanchez et al 1996          |             
|                  |             | to lack of ureteric   | Pichel et al 1996           |
|                  |             | bud. Can be rescued in| Moore et al 1996            |
|                  |             | vivo by added GDNF    | Sainio et al 1997                            |
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| Glucose-6-phosph-| transgenic  | tubules enlarge at the| Lei 1996                   |
|    atase         |             | expense of glomeruli  |
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| Heparan sulphate | transgenic  | no branching of ub,   | Bullock 1998                |
| 2-sulphotransfer-|             | no condensation of    |
| ase              |             | mesenchyme            |
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| Hexosaminidase   | transgenic  | vacuolation           | Phaneuf 1996                   |
|                  |             | during post-natal     |
|                  |             | development           |
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| HNF-1            | transgenic  | Fanconi syndrome      | Pontoglio 1996                   |
|                  |             | during post-natal     |
|                  |             | development           |
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| Hox a-11 +       | transgenic  | severe kidney defects | Davis et al 1995              |             
| Hox d-11         |             |                       |                             |
|  double          |             |                       |                             |
|  mutant          |             |                       |                             |
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| IGF I -/-        | transgenic  | hypoplasia in line    | Liu et al 1993              |             
|                  |             | with that of the whole|                             |
|                  |             | animal (no SPECIFIC   |                             |
|                  |             | renal effects)        |                             |
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| IGFIR -/-        | transgenic  | similar to IGFI       | Liu et al 1993              |
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| IGFII -/-        | transgenic  | similar to IGF I above| DeChiara et al 1990         |
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| integrin         | transgenic  | too few collecting    | Kreidberg 1996                   |
| alpha-3 -/-      |             | duct branches; cystic |                             |
|                  |             | proximal tubules      |                             |
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| integrin         | transgenic  | failure of ureteric   | Muller 1997                   |
| alpha-8 -/-      |             | bud growth; nephrons  |                             |
|                  |             | don't epithelialize   |                             |
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| ld (limb         | random      | variable failure of   | Maas 1994                   |
| deformity -      |             | ureteric bud growth   |                             |
| affects formins  |             |                       |                             |
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| LIM-1 -/-        | transgenic  | failure of kidney and | Swawbrot and Behringer 1995 | 
|                  |             | genital development   |                             |
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| Neuraminidase    | transgenic  | cell vacuolation      | Zhou 1995                   |
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|Os/+              | random      | hypoplasia in vivo and| Sorenson et al 1996 | 
| (oligosyndactyly)|             | in culture            |                             |
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| p53 over-        | transgenic  | Hypoplastic; defective| Godley et al. 1996 | 
|  expression      |             | collecting duct diffn.|
|                  |             | High apoptosis of     |
|                  |             | nephrogenic mesenchyme|
|                  |             | 'inefficient convers- |
|                  |             | ion to tubules'       |
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| p57-KIP2 -/-     | transgenic  | medullary dysplasia   | Zhang et al. 1997 | 
|                  |             | like Beckwith-        |
|                  |             | Wiedemann syndrome    |
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| Pax-2  -/-       | transgenic  | failure of mesonephros| Torres et al. 1995 | 
|                  |             | metanephros & genital |
|                  |             | development. Neither  |
|                  |             | tubules nor ureteric  |
|                  |             | bud form. Even hetero-|
|                  |             | zygote has small kid's|
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| PDGF-B -/-       | transgenic  | very few glomeruli    | Leveen 1995                 |
|                  |             |                       | Lindahl 1998                |
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| PDGF-R -/-       | transgenic  | very few glomeruli    | Soriano 1994                |
|                  |             |                       | Lindahl 1998                |
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| Retinoic acid    | transgenic  | aplasia (due to lack  | Moens 1993                 |
|  receptor -/-    |             | of ureteric bud) &    |                             |
| (but see table   |             | hypoplasia. Variable  |                             |
|     below and    |             | phenotype; some RAR   |                             |
|     entry below) |             | subtype redundancy    |                             |
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| Retinoic acid    | transgenic  | Impaired stromal      | Mendelsohn 1999                |
|  receptor (RAR)  |             | function, poor ub     |                             |
| alpha / beta 1   |             | branching. c-Ret down-|                             |
| double KO        |             | regulated.            |                             |
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| c-ret -/-        | transgenic  | variable failure of   | Pachnis 1993                |
|                  |             | ureteric bud invasion,| Schuchardt 1994             |
|                  |             | growth and branching. |                             |
|                  |             | MM can still be induced                             |
|                  |             | by spinal cord.       |                             |
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| c-ret driven     | transgenic  | variable failure of   | Srinivas 1999               |
|  by hox b7       |             | ureteric bud          |                             |
|  promoter        |             | growth and branching. |                             |
|   (= expression  |             | (see paper - this     |                             |
|   throughout bud)|             |  summary too brief)   |                             |
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| Sd (Danforth's   | random      | hypoplastic/aplastic  | Gluecksohn-Schoenheimer 1943|
| short tail)      |             | kidneys (ureteric bud |                             |
|                  |             | invasion inhibited)   |                             |
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| Shh (Somic       | transgenic  | Kidney defect of      | Chiang 1996
| hedgehog         |             | unspecified type      |                             |
|                  |             |                       |                             |
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| Uteroglobin      | transgenic  | FN-deposit glomerular | Zhang 1997
| knockout         |             | disease               |                             |
|                  |             |                       |                             |
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| Wg (chicken      | random      | Failure of ureteric   | Secondary source: Ede 1978 -|
|  wingless)       |             | bud invasion          | anyone know the primary     |
| (presumably      |             |                       | source? (please mail me)    |
| nothing to do    |             |                       |                             |
| with Drosophila  |             |                       |                             |
| Wg or Wnt genes) |             |                       |                             |
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| Wnt4 -/-         | transgenic  | MM won't epithelialise| Stark 1994                  |
|                  |             | and wnt4 transcription|                             |
|                  |             | not activated (not even                             |
|                  |             | the mutant message)   |                             |
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| WT-1 -/-         | transgenic  | absence of metanephro-| Kreidberg 1993                          |
|                  |             |  genic mesenchyme     |                             |
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Mutant animals with NO apparent kidney defects

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| Mutant           | type        | Reference                              |
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| BMP-5            | random (se) | King 1994                              |
| CRABPI           | transgenic  | de Bruijn 1994                         |
| HGF              | transgenic  | Birchmeier pers comm                   |
| Hox C9           | transgenic  | Suemori 1995                           |
| Hox 11 (alone)   | transgenic  | Hseih-Li 1995                          |
| Integrin alpha 6 | transgenic  | Georges-Labouesse 1996
| LIFR             | transgenic  | Ware et al 1995                        |
| MMP-9 -/-        | transgenic  | Andrews et al 2000                     |
| NCAM             | transgenic  | Cramer 94                              |
| p75 NGFR         | transgenic  | Lee et al. 1992                        |
| RAR betas (all)  | transgenic  | Luo et al. 1995    (but see above)
| RAR beta-2       | transgenic  |  Mendelsohn 1994b (but see above)      |
| Vimentin         | transgenic  | Collucci-Guyon 94                      |
| Wnt1             | transgenic  | Wilkinson 87                           |
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(Press here to leave the kidney development database and enter the transgenic mouse database) 
Date of last revision: 12th July 2000. Comments are always welcome.
Jamie.Davies@ed.ac.uk