Phenotypes Associated with This Genotype

Genotype
MGI:5696188

• Allelic Composition: Col4a4^bwk/Col4a4^bwk
• Genetic Background: NON;NZO-Col4a4^bwk/J

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

mortality/aging

premature death ( J:223185 )

• mean age of death is 124 days

• Background Sensitivity: lifespan is longer than in DBA/2J background

renal/urinary system

albuminuria ( J:223185 )

• progressive elevated ACR (albumin to creatinine ratio) beginning at 4 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 )

• diffuse infiltrates of inflammatory cells observed in kidneys at 3 months of age

tubulointerstitial nephritis ( J:223185 )

• tubulointerstitial nephritis

glomerulosclerosis ( J:223185 )

glomerular crescent ( J:223185 )

• fibrocellular crescents observed in some glomeruli at 3 months of age

renal glomerular synechia ( J:223185 )

• synechiae observed in some glomeruli at 3 months of age

abnormal kidney interstitium morphology ( J:223185 )

• expanded interstitium

• mesangial matrix replaces or encroaches on many tubules by 3 months of age

renal tubule atrophy ( J:223185 )

• tubular atrophy observed at 3 months of age

dilated renal tubule ( J:223185 )

• dilated tubules at 3 months of age

renal cast ( J:223185 )

• tubular protein casts

vision/eye

vision/eye phenotype ( J:223185 )

N • no eye pathology is detected

immune system

kidney inflammation ( J:223185 )

• diffuse infiltrates of inflammatory cells observed in kidneys at 3 months of age

tubulointerstitial nephritis ( J:223185 )

• tubulointerstitial nephritis

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 4 weeks of age

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

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