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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Col4a4m1Btlr
mutation 1, Bruce Beutler
MGI:4838032
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Col4a4m1Btlr/Col4a4m1Btlr C57BL/6J-Col4a4m1Btlr MGI:4838199


Genotype
MGI:4838199
hm1
Allelic
Composition
Col4a4m1Btlr/Col4a4m1Btlr
Genetic
Background
C57BL/6J-Col4a4m1Btlr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a4m1Btlr mutation (1 available); any Col4a4 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice homozygous for this mutation die spontaneously at 6-7 months of age of kidney failure (J:158794)
• 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 (J:158794)
• moribund mice have dramatically elevated blood urea nitrogen (BUN) and creatinine, consistent with end-stage renal disease/kidney failure (J:158794)
• moribund mice have dramatically elevated blood creatinine (J:158794)
• moribund mice have dramatically elevated blood creatinine (J:158794)
• moribund mice have dramatically elevated blood urea nitrogen (BUN) (J:158794)
• moribund mice have dramatically elevated blood urea nitrogen (BUN) (J:158794)
• proteinuria detected as early as 2 months of age (J:170552)
• proteinuria detected as early as 2 months of age (J:170552)
• hematuria detected as early as 2 months of age (J:170552)
• hematuria detected as early as 2 months of age (J:170552)
• presence of leukocytes in urine as early as 2 months of age (J:170552)
• presence of leukocytes in urine as early as 2 months of age (J:170552)

renal/urinary system
• proteinuria detected as early as 2 months of age (J:170552)
• proteinuria detected as early as 2 months of age (J:170552)
• hematuria detected as early as 2 months of age (J:170552)
• hematuria detected as early as 2 months of age (J:170552)
• presence of leukocytes in urine as early as 2 months of age (J:170552)
• presence of leukocytes in urine as early as 2 months of age (J:170552)
• 5-month-old mutants display indentations and pitting of the cortical region (J:170552)
• 5-month-old mutants display indentations and pitting of the cortical region (J:170552)
• occasional evidence of increased matrix is seen at 2 months (J:170552)
• occasional evidence of increased matrix is seen at 2 months (J:170552)
• focal glomerulosclerosis is observed upon necropsy of moribund animals (J:158794)
• 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)
• 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 (J:170552)
• collagen deposition extending from the cortex into the medulla is seen in many areas at 5 months (J:170552)
• observed at necropsy of moribund mice (J:158794)
• observed at necropsy of moribund mice (J:158794)
• in some areas at 5 months of age (J:170552)
• in some areas at 5 months of age (J:170552)
• in some areas at 5 months of age (J:170552)
• in some areas at 5 months of age (J:170552)
• observed upon necropsy of moribund mice (J:158794)
• 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)
• 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)
• 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)
• at necropsy, the stomachs of moribund mice are enlarged and contain undigested food (J:158794)

growth/size/body
• mutant mice are somewhat leaner than wild-type mice, but otherwise appear normal and are fertile (J:158794)
• mutant mice are somewhat leaner than wild-type mice, but otherwise appear normal and are fertile (J:158794)

hearing/vestibular/ear
• elevated auditory brainstem response (ABR) threshold (>70 dB) (J:170552)
• elevated auditory brainstem response (ABR) threshold (>70 dB) (J:170552)
• incomplete penetrance of moderate sensorineural hearing loss as indicated by elevated auditory brainstem response (ABR) threshold (>70 dB) (J:170552)
• incomplete penetrance of moderate sensorineural hearing loss as indicated by elevated auditory brainstem response (ABR) threshold (>70 dB) (J:170552)

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





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory