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Phenotypes Associated with This Genotype
Genotype
MGI:3610502
Allelic
Composition
Col4a5tm1Yseg/Col4a5+
Genetic
Background
B6.Cg-Col4a5tm1Yseg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a5tm1Yseg mutation (1 available); any Col4a5 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• females become ill and begin to die at 8 weeks of age with a median survival age of 39 weeks; however, some survive to 50 weeks of age

renal/urinary system
• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 78% of females after 9 weeks of age
• in older, visibly ill mice, kidneys appear pale and dull and are pockmarked
• the appearance of kidney abnormalities is delayed relative to hemizygous mutant males
• abnormalities similar to those in males are seen but at later times
• at 17 weeks of age some glomeruli develop focal areas of lamellation and other diffuse changes with widespread abnormalities seen at 30 weeks of age
• abnormalities similar to those in males are seen but at later times
• in older, visibly ill mice, kidneys appear pale

homeostasis/metabolism
• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 78% of females after 9 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
09/20/2016
MGI 6.05
The Jackson Laboratory