Mouse Genome Informatics
ht1
    Col4a5tm1Yseg/Col4a5+
B6.Cg-Col4a5tm1Yseg
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:102306)

renal/urinary system
• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 78% of females after 9 weeks of age (J:102306)
• in older, visibly ill mice, kidneys appear pale and dull and are pockmarked (J:102306)
• the appearance of kidney abnormalities is delayed relative to hemizygous mutant males (J:102306)
• abnormalities similar to those in males are seen but at later times (J:102306)
• 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 (J:102306)
• abnormalities similar to those in males are seen but at later times (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 78% of females after 9 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)

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


Mouse Genome Informatics
ot2
    Col4a5tm1Yseg/Y
B6.Cg-Col4a5tm1Yseg
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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)

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)
• 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)
• 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 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)
• 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)
• 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 tubular atrophy 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)

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)

immune system
• 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)
• 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)

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