Phenotypes Associated with This Genotype

Genotype
MGI:4838199

• Allelic Composition: Col4a4^m1Btlr/Col4a4^m1Btlr
• Genetic Background: C57BL/6J-Col4a4^m1Btlr

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

mortality/aging

premature death ( J:158794 , J:170552 )

• mice homozygous for this mutation die spontaneously at 6-7 months of age of kidney failure (J:158794)

homeostasis/metabolism

uremia ( J:158794 )

• moribund mice have dramatically elevated blood urea nitrogen (BUN) and creatinine, consistent with end-stage renal disease/kidney failure

increased circulating creatinine level ( J:158794 )

• moribund mice have dramatically elevated blood creatinine

increased blood urea nitrogen level ( J:158794 , J:170552 )

• moribund mice have dramatically elevated blood urea nitrogen (BUN) (J:158794)

increased urine protein level ( J:170552 )

• proteinuria detected as early as 2 months of age

hematuria ( J:170552 )

• hematuria detected as early as 2 months of age

leukocyturia ( J:170552 )

• presence of leukocytes in urine as early as 2 months of age

renal/urinary system

increased urine protein level ( J:170552 )

• proteinuria detected as early as 2 months of age

hematuria ( J:170552 )

• hematuria detected as early as 2 months of age

leukocyturia ( J:170552 )

• presence of leukocytes in urine as early as 2 months of age

abnormal kidney cortex morphology ( J:170552 )

• 5-month-old mutants display indentations and pitting of the cortical region

expanded mesangial matrix ( J:170552 )

• occasional evidence of increased matrix is seen at 2 months

glomerulosclerosis ( J:158794 , J:170552 )

• focal glomerulosclerosis is observed upon necropsy of moribund animals (J:158794)

• at 5 months, focal segmental glomerulosclerosis is observed with crowding of glomeruli, tubular atrophy, interstitial fibrosis and dilated tubules in some areas (J:170552)

• completely sclerosed glomeruli are seen in some areas at 5 months (J:170552)

renal interstitial fibrosis ( J:170552 )

• collagen deposition extending from the cortex into the medulla is seen in many areas at 5 months

small kidney ( J:158794 , J:170552 )

• observed at necropsy of moribund mice (J:158794)

renal tubule atrophy ( J:170552 )

• in some areas at 5 months of age

dilated renal tubule ( J:170552 )

• in some areas at 5 months of age

pale kidney ( J:158794 , J:170552 )

• observed upon necropsy of moribund mice (J:158794)

kidney failure ( J:158794 , J:170552 )

• moribund mice have dramatically elevated blood urea nitrogen (BUN) and creatinine, consistent with end-stage renal disease/kidney failure (J:158794)

• mutants develop early nephritic syndrome and progress to end-stage renal failure between 6 and 7 months of age (J:170552)

digestive/alimentary system

distended stomach ( J:158794 , J:170552 )

• at necropsy, the stomachs of moribund mice are enlarged and contain undigested food (J:158794)

growth/size/body

decreased body weight ( J:158794 )

• mutant mice are somewhat leaner than wild-type mice, but otherwise appear normal and are fertile

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:170552 )

• elevated auditory brainstem response (ABR) threshold (>70 dB)

impaired hearing ( J:158794 )

sensorineural hearing loss ( J:170552 )

• incomplete penetrance of moderate sensorineural hearing loss as indicated by elevated auditory brainstem response (ABR) threshold (>70 dB)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive Alport syndrome		DOID:0110033	OMIM:203780	J:158794 , J:170552