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Phenotypes Associated with This Genotype
Genotype
MGI:5696200
Allelic
Composition
Col4a4bwk/Col4a4bwk
Genetic
Background
129S1.NON(NZO)-Col4a4bwk/PgnJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a4bwk mutation (3 available); any Col4a4 mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• progressive elevated ACR (albumin to creatinine ratio) beginning at 6 weeks of age
• Background Sensitivity: ratios are highest in mice on the DBA/2J background as compared to the 129S1 and NON;NZO backgrounds
• inflammatory cell infiltration is observed by 9 weeks
• Background Sensitivity: phenotype is observed at 6 weeks on the DBA/2 background
• podocyte foot process effacement is observed beginning at 6 weeks
• glomerular basement membrane (GBM) splitting, thickening and basket-weave pattern is observed beginning at 6 weeks
• Background Sensitivity: phenotype is more severe on the DBA/2J background
• glomerular lesions are observed by 9 weeks
• kidneys exhibit severe end stage renal disease by 12 weeks of age
• tubular atrophy is observed by 9 weeks
• protein casts are observed by 9 weeks
• Background Sensitivity: phenotype is observed at 6 weeks on the DBA/2 background

mortality/aging
• kidneys exhibit severe end stage renal disease by 12 weeks of age

homeostasis/metabolism
• progressive elevated ACR (albumin to creatinine ratio) beginning at 6 weeks of age
• Background Sensitivity: ratios are highest in mice on the DBA/2J background as compared to the 129S1 and NON;NZO backgrounds

vision/eye
N
• no eye pathology is detected

immune system
• inflammatory cell infiltration is observed by 9 weeks
• Background Sensitivity: phenotype is observed at 6 weeks on the DBA/2 background

hearing/vestibular/ear
N
• no hearing pathology is detected

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive Alport syndrome DOID:0110033 OMIM:203780
J:223185


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/09/2022
MGI 6.21
The Jackson Laboratory