Mouse Genome Informatics
ht
    Col4a5tm1Yseg/Col4a5+
B6.Cg-Col4a5tm1Yseg
Key:
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 IDRef(s)
Alport Syndrome, X-Linked; ATS 301050 J:102306 , J:210414