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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 (9 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 (J:102306)
• median survival is 23 weeks of age (J:102306)
• males become ill and begin to die at 6 weeks of age with none surviving beyond 34 weeks of age (J:102306)
• median survival is 23 weeks of age (J:102306)

renal/urinary system
• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 97% of males after 7 weeks of age (J:102306)
• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 97% of males after 7 weeks of age (J:102306)
• at 17 weeks of age widespread interstitial inflammation is seen (J:102306)
• at 17 weeks of age widespread interstitial inflammation is seen (J:102306)
• in older, visibly ill mice, kidneys appear pale and dull and are pockmarked (J:102306)
• in older, visibly ill mice, kidneys appear pale and dull and are pockmarked (J:102306)
• at 17 weeks of age signs of podocyte injury, including foot process effacement, vesiculation, and denudation, are present (J:102306)
• at 17 weeks of age signs of podocyte injury, including foot process effacement, vesiculation, and denudation, are present (J:102306)
• at 4 weeks of age lamellation of glomerular basement membranes is present (J:102306)
• by 17 weeks of age diffuse basement membrane abnormalities including lamellation and splitting are seen (J:102306)
• at 4 weeks of age lamellation of glomerular basement membranes is present (J:102306)
• by 17 weeks of age diffuse basement membrane abnormalities including lamellation and splitting are seen (J:102306)
• at 17 weeks of age glomeruli display many, variable abnormalities including capillary loop dilation and simplification, capillary tuft collapse, capsular adhesions, and focal sclerosis (J:102306)
• at 17 weeks of age glomeruli display many, variable abnormalities including capillary loop dilation and simplification, capillary tuft collapse, capsular adhesions, and focal sclerosis (J:102306)
• at 4 weeks of age capillary wall thickening is seen (J:102306)
• capillary loop dilation, simplification, and capillary tuft collapse may be seen at 17 weeks of age (J:102306)
• at 4 weeks of age capillary wall thickening is seen (J:102306)
• capillary loop dilation, simplification, and capillary tuft collapse may be seen at 17 weeks of age (J:102306)
• capillary loop dilation may be seen at 17 weeks of age (J:102306)
• capillary loop dilation may be seen at 17 weeks of age (J:102306)
• at 4 weeks of age mesangial hypercellularity is seen; however, the tubulointerstitium is similar to wild-type (J:102306)
• at 4 weeks of age mesangial hypercellularity is seen; however, the tubulointerstitium is similar to wild-type (J:102306)
• focal sclerosis may be observed at at 17 weeks of age (J:102306)
• focal sclerosis may be observed at at 17 weeks of age (J:102306)
• at 17 weeks of age capsular adhesions may be seen (J:102306)
• at 17 weeks of age capsular adhesions may be seen (J:102306)
• at 17 weeks of age tubular atrophy is seen (J:102306)
• at 17 weeks of age tubular atrophy is seen (J:102306)
• at 17 weeks of age tubular dilation is seen (J:102306)
• at 17 weeks of age tubular dilation is seen (J:102306)
• in older, visibly ill mice, kidneys appear pale (J:102306)
• in older, visibly ill mice, kidneys appear pale (J:102306)

homeostasis/metabolism
• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 97% of males after 7 weeks of age (J:102306)
• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 97% of males after 7 weeks of age (J:102306)

immune system
• at 17 weeks of age widespread interstitial inflammation is seen (J:102306)
• at 17 weeks of age widespread interstitial inflammation is seen (J:102306)

cardiovascular system
• at 4 weeks of age capillary wall thickening is seen (J:102306)
• capillary loop dilation, simplification, and capillary tuft collapse may be seen at 17 weeks of age (J:102306)
• at 4 weeks of age capillary wall thickening is seen (J:102306)
• capillary loop dilation, simplification, and capillary tuft collapse may be seen at 17 weeks of age (J:102306)
• capillary loop dilation may be seen at 17 weeks of age (J:102306)
• capillary loop dilation may be seen at 17 weeks of age (J:102306)

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 (J:210414)
• 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 (J:210414)
• 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 (J:210414)
• 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 (J:210414)

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
02/02/2016
MGI 6.02
The Jackson Laboratory