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Phenotypes Associated with This Genotype
Genotype
MGI:6479076
Allelic
Composition
Col4a5em1Keha/Y
Genetic
Background
C57BL/6J-Col4a5em1Keha
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a5em1Keha mutation (0 available); any Col4a5 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice start dying from 26 weeks of age and 72.2% die by 30 weeks of age

growth/size/body
• body weight increases normally until 14 weeks of age but does not increase as much as in wild-type mice after 16 weeks of age

renal/urinary system
• urinary albumin levels tend to be increased at 6 weeks of age and increase with age, remaining high after 22 weeks of age
• urinary albumin corrected by creatinine is increased with aging
• hematuria is seen after 22 weeks of age
• 22-week old mice show thickened Bowmans capsule
• 6-week old mice show occasional foot process effacement
• 6-week old mice show focal irregularity of glomerular basement membrane
• 22-week old mice show thickening with matrix lamination in glomerular basement membrane
• few glomeruli exhibit collapsed glomerular tuft accompanied by parietal cell hyperplasia mimicking crescent formation in 6-week old mice
• tubulointerstitial changes are limited to the peri-glomerular area of involved glomeruli
• marked glomerular changes are seen at 22 weeks, including glomerular tuft collapse with thickened Bowmans capsule
• 22-week old mice exhibit increased mesangial matrices
• tubulointerstitial changes are associated with accumulated glomerulosclerosis
• 6-week old mice exhibit tubulointerstitial fibrosis

homeostasis/metabolism
• increases with aging
• urinary albumin levels tend to be increased at 6 weeks of age and increase with age, remaining high after 22 weeks of age
• urinary albumin corrected by creatinine is increased with aging
• hematuria is seen after 22 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
X-linked Alport syndrome DOID:0110034 OMIM:301050
J:283613


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
02/20/2024
MGI 6.23
The Jackson Laboratory