Phenotypes Associated with This Genotype

Genotype
MGI:3510654

• Allelic Composition: Col4a3^tm1Jhm/Col4a3^tm1Jhm; Mmp9^tm1Tvu/Mmp9^tm1Tvu
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

glomerulonephritis ( J:63137 )

• double homozygotes exhibit no differences in the progression of glomerulonephritis compared with single Col4a3^tm1Jhm mutants, suggesting that MMP9 does not play a major role in the progression of Alport syndrome

renal/urinary system

glomerulonephritis ( J:63137 )

• double homozygotes exhibit no differences in the progression of glomerulonephritis compared with single Col4a3^tm1Jhm mutants, suggesting that MMP9 does not play a major role in the progression of Alport syndrome

abnormal renal glomerulus basement membrane morphology ( J:63137 )

• at 8 weeks, double homozygotes exhibit the characteristic splitting and thickening of the glomerular basement membrane observed in the Col4a3^tm1Jhm mouse model of Alport syndrome

increased renal glomerulus basement membrane thickness ( J:63137 )

• thickening of the glomerular basement membrane observed at 8 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive Alport syndrome		DOID:0110033	OMIM:203780	J:63137