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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Col4a5tm1Yseg
targeted mutation 1, Yoav Segal
MGI:3609047
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Col4a5tm1Yseg/Col4a5+ B6.Cg-Col4a5tm1Yseg MGI:3610502
cx2
Col4a5tm1Yseg/Col4a5+
Lamb2em1Jhm/Lamb2+
involves: 129X1/SvJ * C57BL/6J * CBA/J MGI:6378623
ot3
Col4a5tm1Yseg/Y B6.Cg-Col4a5tm1Yseg MGI:3610503


Genotype
MGI:3610502
ht1
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 (14 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
DO ID OMIM ID(s) Ref(s)
X-linked Alport syndrome DOID:0110034 OMIM:301050
J:102306 , J:210414




Genotype
MGI:6378623
cx2
Allelic
Composition
Col4a5tm1Yseg/Col4a5+
Lamb2em1Jhm/Lamb2+
Genetic
Background
involves: 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a5tm1Yseg mutation (1 available); any Col4a5 mutation (14 available)
Lamb2em1Jhm mutation (0 available); any Lamb2 mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• mice show increased albuminuria compared to single Col4a5 heterozygotes between 4-6 weeks of age
• the urinary albumin-to-creatine ratio (ACR) is not different at 8 weeks but is higher than in single Col4a5 heterozygotes at 12 weeks, indicating accelerated disease progression
• mice show tubular protein casts as early as 8 weeks of age
• mice show enhanced glomerulosclerosis than in single Col4a5 heterozygotes at 8 weeks of age

homeostasis/metabolism
• mice show increased albuminuria compared to single Col4a5 heterozygotes between 4-6 weeks of age
• the urinary albumin-to-creatine ratio (ACR) is not different at 8 weeks but is higher than in single Col4a5 heterozygotes at 12 weeks, indicating accelerated disease progression




Genotype
MGI:3610503
ot3
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 (14 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
• median survival is 23 weeks of age

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

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

immune system
• at 17 weeks of age widespread interstitial inflammation is seen

cardiovascular system
• at 4 weeks of age capillary wall thickening is seen
• capillary loop dilation, simplification, and capillary tuft collapse may be seen at 17 weeks of age
• capillary loop dilation may be seen at 17 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
DO ID OMIM ID(s) Ref(s)
X-linked Alport syndrome DOID:0110034 OMIM:301050
J:102306 , J:210414





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory