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Phenotypes Associated with This Genotype
Genotype
MGI:3510654
Allelic
Composition
Col4a3tm1Jhm/Col4a3tm1Jhm
Mmp9tm1Tvu/Mmp9tm1Tvu
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a3tm1Jhm mutation (0 available); any Col4a3 mutation (34 available)
Mmp9tm1Tvu mutation (2 available); any Mmp9 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• double homozygotes exhibit no differences in the progression of glomerulonephritis compared with single Col4a3tm1Jhm mutants, suggesting that MMP9 does not play a major role in the progression of Alport syndrome

renal/urinary system
• double homozygotes exhibit no differences in the progression of glomerulonephritis compared with single Col4a3tm1Jhm mutants, suggesting that MMP9 does not play a major role in the progression of Alport syndrome
• at 8 weeks, double homozygotes exhibit the characteristic splitting and thickening of the glomerular basement membrane observed in the Col4a3tm1Jhm mouse model of Alport syndrome
• thickening of the glomerular basement membrane observed at 8 weeks

Mouse Models of Human Disease
OMIM ID Ref(s)
Alport Syndrome, Autosomal Recessive 203780 J:63137


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
06/22/2016
MGI 6.04
The Jackson Laboratory