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Phenotypes Associated with This Genotype
Genotype
MGI:3610503
Allelic
Composition
Col4a5tm1Yseg/Y
Genetic
Background
B6.Cg-Col4a5tm1Yseg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a5tm1Yseg mutation (1 available); any Col4a5 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• males become ill and begin to die at 6 weeks of age with none surviving beyond 34 weeks of age
• median survival is 23 weeks of age

renal/urinary system
• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 97% of males after 7 weeks of age
• at 17 weeks of age widespread interstitial inflammation is seen
• in older, visibly ill mice, kidneys appear pale and dull and are pockmarked
• at 17 weeks of age signs of podocyte injury, including foot process effacement, vesiculation, and denudation, are present
• at 4 weeks of age lamellation of glomerular basement membranes is present
• by 17 weeks of age diffuse basement membrane abnormalities including lamellation and splitting are seen
• at 17 weeks of age glomeruli display many, variable abnormalities including capillary loop dilation and simplification, capillary tuft collapse, capsular adhesions, and focal sclerosis
• capillary loop dilation, simplification, and capillary tuft collapse may be seen at 17 weeks of age
• at 4 weeks of age capillary wall thickening is seen
• capillary loop dilation may be seen at 17 weeks of age
• at 4 weeks of age mesangial hypercellularity is seen; however, the tubulointerstitium is similar to wild-type
• focal sclerosis may be observed at at 17 weeks of age
• at 17 weeks of age capsular adhesions may be seen
• at 17 weeks of age tubular atrophy is seen
• at 17 weeks of age tubular dilation is seen
• in older, visibly ill mice, kidneys appear pale

homeostasis/metabolism
• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 97% of males after 7 weeks of age

immune system
• at 17 weeks of age widespread interstitial inflammation is seen

cardiovascular system
• at 4 weeks of age capillary wall thickening is seen
• capillary loop dilation, simplification, and capillary tuft collapse may be seen at 17 weeks of age
• capillary loop dilation may be seen at 17 weeks of age

vision/eye
• lenses strain significantly more than wild-type lenses in the anterior-posterior direction (along their thickness but not in the equatorial direction) in osmotic swelling experiments indicating increased distensibility of lens capsule
• lenses strain significantly more than wild-type lenses in the anterior-posterior direction (along their thickness but not in the equatorial direction) in osmotic swelling experiments indicating increased distensibility of lens capsule

Mouse Models of Human Disease
OMIM ID Ref(s)
Alport Syndrome, X-Linked; ATS 301050 J:102306 , J:210414


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory