Phenotypes associated with this allele

• Allele Symbol: Col4a4^bwk
• Allele Name: bilateral wasted kidneys
• Allele ID: MGI:4838011
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col4a4^bwk/Col4a4^bwk	129S1.NON(NZO)-Col4a4^bwk/PgnJ	MGI:5696200
hm2	Col4a4^bwk/Col4a4^bwk	D2.NON(NZO)-Col4a4^bwk/GrsrJ	MGI:5696196
hm3	Col4a4^bwk/Col4a4^bwk	NONcNZO4/Lt-Col4a4^bwk	MGI:5696184
hm4	Col4a4^bwk/Col4a4^bwk	NON;NZO-Col4a4^bwk/J	MGI:5696188

Genotype
MGI:5696200

hm1

• Allelic Composition: Col4a4^bwk/Col4a4^bwk
• Genetic Background: 129S1.NON(NZO)-Col4a4^bwk/PgnJ

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

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 )

• inflammatory cell infiltration is observed by 9 weeks

• Background Sensitivity: phenotype is observed at 6 weeks on the DBA/2 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 more 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 )

• protein casts are observed by 9 weeks

• Background Sensitivity: phenotype is observed at 6 weeks on the DBA/2 background

mortality/aging

premature death ( J:223185 )

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

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

immune system

kidney inflammation ( J:223185 )

• inflammatory cell infiltration is observed by 9 weeks

• Background Sensitivity: phenotype is observed at 6 weeks on the DBA/2 background

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:223185 )

N • no hearing 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

Genotype
MGI:5696196

hm2

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

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

Genotype
MGI:5696184

hm3

• Allelic Composition: Col4a4^bwk/Col4a4^bwk
• Genetic Background: NONcNZO4/Lt-Col4a4^bwk

growth/size/body

decreased body size ( J:223185 )

• mice appear leaner than litter mates one or two weeks after weaning

mortality/aging

premature death ( J:223185 )

• mice die by 8-10 weeks

renal/urinary system

abnormal kidney morphology ( J:223185 )

• kidneys are pitted

pale kidney ( J:223185 )

Genotype
MGI:5696188

hm4

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

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