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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 (9 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 (J:102306)
• 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)
• 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)
• 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)
• 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)
• abnormalities similar to those in males are seen but at later times (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 78% of females after 9 weeks of age (J:102306)
• 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)
• 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