Mouse Genome Informatics
hm1
    Col4a4m1Btlr/Col4a4m1Btlr
C57BL/6J-Col4a4m1Btlr
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mice homozygous for this mutation die spontaneously at 6-7 months of age of kidney failure (J:158794)

homeostasis/metabolism
• moribund mice have dramatically elevated blood urea nitrogen (BUN) and creatinine, consistent with end-stage renal disease/kidney failure
• moribund mice have dramatically elevated blood creatinine
• moribund mice have dramatically elevated blood urea nitrogen (BUN) (J:158794)
• proteinuria detected as early as 2 months of age
• hematuria detected as early as 2 months of age
• presence of leukocytes in urine as early as 2 months of age

renal/urinary system
• proteinuria detected as early as 2 months of age
• hematuria detected as early as 2 months of age
• presence of leukocytes in urine as early as 2 months of age
• 5-month-old mutants display indentations and pitting of the cortical region
• occasional evidence of increased matrix is seen at 2 months
• 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)
• collagen deposition extending from the cortex into the medulla is seen in many areas at 5 months
• observed at necropsy of moribund mice (J:158794)
• in some areas at 5 months of age
• in some areas at 5 months of age
• observed upon necropsy of moribund mice (J:158794)
• 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
• at necropsy, the stomachs of moribund mice are enlarged and contain undigested food (J:158794)

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

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

Mouse Models of Human Disease
OMIM IDRef(s)
Alport Syndrome, Autosomal Recessive 203780 J:158794 , J:170552