Phenotypes Associated with This Genotype

Genotype
MGI:4452030

• Allelic Composition: Col4a3^tm1Dec/Col4a3^tm1Dec
• Genetic Background: 129-Col4a3^tm1Dec/J

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

Sostdc1^tm1Myan/Sostdc1^tm1Myan Col4a3^tm1Dec/Col4a3^tm1Dec mice show less glomerular and tubular injury than Col4a3^tm1Dec/Col4a3^tm1Dec mice

mortality/aging

decreased survivor rate ( J:158731 )

• impaired survival compared to Col4a3^tm1Dec Sostdc1^tm1Myan double homozygotes beyond 13 weeks of age

premature death ( J:158731 )

• impaired survival compared to Col4a3^tm1Dec Sostdc1^tm1Myan double homozygotes beyond 13 weeks of age

renal/urinary system

glomerulus hemorrhage ( J:158731 )

• intraglomerular hemorrhage at 6 weeks of age

increased urine protein level ( J:158731 )

• at 5 weeks of age, proteinuria is initiated

albuminuria ( J:158731 )

abnormal renal glomerulus basement membrane morphology ( J:158731 )

• irregular thickening and splitting of the glomerular basement membrane at 4 weeks of age by electron microscopy

increased renal glomerulus basement membrane thickness ( J:158731 )

• irregular thickening at 4 weeks of age

abnormal renal glomerulus morphology ( J:158731 )

• at 6 weeks of age, minor glomerular lesions are occasionally observed by light microscopy

glomerulonephritis ( J:158731 )

• progressive glomerulonephritis

glomerulosclerosis ( J:158731 )

• segmental sclerosis at 6 weeks of age

• at 10 weeks of age mice demonstrate glomerulosclerosis associated with inflammatory cell infiltration, interstitial fibrosis, tubular atrophy, and cast formation

renal interstitial fibrosis ( J:158731 )

• at 10 weeks of age, severe glomerular lesions associated with tubulointerstitial fibrosis are observed

renal tubule atrophy ( J:158731 )

• at 10 weeks of age mice demonstrate tubular atrophy

renal cast ( J:158731 )

• renal cast formation at 10 weeks of age

kidney failure ( J:158731 )

• at 10 weeks of age renal function is deteriorating

homeostasis/metabolism

increased circulating creatinine level ( J:158731 )

• at 10 weeks of age

increased blood urea nitrogen level ( J:158731 )

• at 10 weeks of age

increased urine protein level ( J:158731 )

• at 5 weeks of age, proteinuria is initiated

albuminuria ( J:158731 )

immune system

glomerulonephritis ( J:158731 )

• progressive glomerulonephritis

cardiovascular system

glomerulus hemorrhage ( J:158731 )

• intraglomerular hemorrhage at 6 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive Alport syndrome		DOID:0110033	OMIM:203780	J:158731