Phenotypes Associated with This Genotype

Genotype
MGI:5696196

• Allelic Composition: Col4a4^bwk/Col4a4^bwk
• Genetic Background: D2.NON(NZO)-Col4a4^bwk/GrsrJ

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

mortality/aging

premature death ( J:223185 )

• mean age of death is 84 days

• Background Sensitivity: lifespan is shorter than in NON;NZO background

renal/urinary system

albuminuria ( J:223185 )

• progressive elevated ACR (albumin to creatinine ratio) beginning at 6 weeks of age

• Background Sensitivity: ratios are highest in mice on the DBA/2J background as compared to the 129S1 and NON;NZO backgrounds

kidney inflammation ( J:223185 )

• Background Sensitivity: mild inflammatory cell infiltration of kidneys at 6 weeks on the DBA/2 background

• Background Sensitivity: infiltration appears by 9 weeks on the 129S1 background

podocyte foot process effacement ( J:223185 )

• podocyte foot process effacement is observed beginning at 6 weeks

abnormal renal glomerulus basement membrane morphology ( J:223185 )

• glomerular basement membrane (GBM) splitting, thickening and basket-weave pattern is observed beginning at 6 weeks

• Background Sensitivity: phenotype is less severe on the DBA/2J background

increased renal glomerulus basement membrane thickness ( J:223185 )

glomerulosclerosis ( J:223185 )

• glomerular lesions are observed by 9 weeks

• kidneys exhibit severe end stage renal disease by 12 weeks of age

renal tubule atrophy ( J:223185 )

• tubular atrophy is observed by 9 weeks

renal cast ( J:223185 )

• Background Sensitivity: early onset protein casts are found in kidneys at 6 weeks on the DBA/2 background

• Background Sensitivity: casts appear by 9 weeks on the 129S1 background

immune system

kidney inflammation ( J:223185 )

• Background Sensitivity: mild inflammatory cell infiltration of kidneys at 6 weeks on the DBA/2 background

• Background Sensitivity: infiltration appears by 9 weeks on the 129S1 background

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:223185 )

N • no hearing pathology is detected

homeostasis/metabolism

albuminuria ( J:223185 )

• progressive elevated ACR (albumin to creatinine ratio) beginning at 6 weeks of age

• Background Sensitivity: ratios are highest in mice on the DBA/2J background as compared to the 129S1 and NON;NZO backgrounds

vision/eye

vision/eye phenotype ( J:223185 )

N • no eye pathology is detected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive Alport syndrome		DOID:0110033	OMIM:203780	J:223185