About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2176903
Allelic
Composition
Col4a3tm1Jhm/Col4a3tm1Jhm
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a3tm1Jhm mutation (0 available); any Col4a3 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Kidney abnormalities in Col4a3tm1Jhm/Col4a3tm1Jhm mice

mortality/aging
• only ~5% of homozygotes survive beyond 4 months of age (J:37017)
• most homozygotes die 3 weeks after birth (J:37017)
• most homozygotes die 3 weeks after birth (J:37017)
• only ~5% of homozygotes survive beyond 4 months of age (J:37017)
• mice do not survive beyond 32 weeks (J:207595)
• mice do not survive beyond 32 weeks (J:207595)

renal/urinary system
• relative levels of urinary protein are similar in mutant and wild-type mice until ~P40, then rise many-fold in mutant mice (J:37017)
• notably, homozygotes do NOT exhibit hematuria (J:37017)
• relative levels of urinary protein are similar in mutant and wild-type mice until ~P40, then rise many-fold in mutant mice (J:37017)
• notably, homozygotes do NOT exhibit hematuria (J:37017)
• predominant protein detected in urine is albumin (J:37017)
• predominant protein detected in urine is albumin (J:37017)
• at P>65, mutant kidneys appear mottled and wrinkled (J:37017)
• however, at ~5 weeks, mutant kidneys are still externally normal with only minor histological alterations relative to wild-type (J:37017)
• at P>65, mutant kidneys appear mottled and wrinkled (J:37017)
• however, at ~5 weeks, mutant kidneys are still externally normal with only minor histological alterations relative to wild-type (J:37017)
• at P40, a few glomeruli exhibit patches of thickened, closed capillary loops (J:37017)
• at P40, a few glomeruli exhibit patches of thickened, closed capillary loops (J:37017)
• homozygotes exhibit late-onset, progressive glomerulonephritis, leading to renal failure (J:37017)
• homozygotes exhibit late-onset, progressive glomerulonephritis, leading to renal failure (J:37017)
• homozygotes exhibit a basket-weave thickening and lamellation of the glomerular basal lamina (BL) (J:37017)
• several changes in the molecular composition of BL are observed; some occur as early as P15 (J:37017)
• homozygotes exhibit a basket-weave thickening and lamellation of the glomerular basal lamina (BL) (J:37017)
• several changes in the molecular composition of BL are observed; some occur as early as P15 (J:37017)
• decellularized glomerulus basement membrane with a rough and blebby surface (J:207595)
• decellularized glomerulus basement membrane with a rough and blebby surface (J:207595)
• basket-weave thickening of the glomerular basal lamina (J:37017)
• basket-weave thickening of the glomerular basal lamina (J:37017)
• diffuse (J:207595)
• diffuse (J:207595)
• at P40, homozygotes display accumulation of interstitial cells and extracellular matrix (J:37017)
• at P40, homozygotes display accumulation of interstitial cells and extracellular matrix (J:37017)
• at P40, a few glomeruli exhibit retricted segments of thickened Bowman's capsule (crescents) and/or patches of thickened, closed capillary loops (segmental glomerulosclerosis) (J:37017)
• both the number of glomeruli affected and the severity of glomerulosclerotic defects rise subsequently (J:37017)
• at P40, a few glomeruli exhibit retricted segments of thickened Bowman's capsule (crescents) and/or patches of thickened, closed capillary loops (segmental glomerulosclerosis) (J:37017)
• both the number of glomeruli affected and the severity of glomerulosclerotic defects rise subsequently (J:37017)
• at P40, a few glomeruli exhibit retricted segments of thickened Bowman's capsule (crescents) (J:37017)
• at P40, a few glomeruli exhibit retricted segments of thickened Bowman's capsule (crescents) (J:37017)
• at P>65, mutant kidneys appear small relative to wild-type (J:37017)
• at P>65, mutant kidneys appear small relative to wild-type (J:37017)
• at P40, homozygotes display atrophic kidney tubules (J:37017)
• at P40, homozygotes display atrophic kidney tubules (J:37017)
• tubular protein cast (J:207595)
• tubular protein cast (J:207595)
• homozygotes display impaired glomerular filtration leading to uremia (J:37017)
• homozygotes display impaired glomerular filtration leading to uremia (J:37017)
• late-onset, progressive glomerulonephritis leading to renal failure (J:37017)
• late-onset, progressive glomerulonephritis leading to renal failure (J:37017)
• at P60, homozygotes display increased urinary volume relative to wild-type (J:37017)
• at P60, homozygotes display increased urinary volume relative to wild-type (J:37017)

homeostasis/metabolism
• in homozygotes, blood creatinine levels rise after P60 (J:37017)
• in contrast, creatinine concentrations in urine decline after P60 (J:37017)
• a small % of mutants maintain normal levels of blood creatinine and show a mild renal phenotype (J:37017)
• in homozygotes, blood creatinine levels rise after P60 (J:37017)
• in contrast, creatinine concentrations in urine decline after P60 (J:37017)
• a small % of mutants maintain normal levels of blood creatinine and show a mild renal phenotype (J:37017)
• in homozygotes, blood urea nitrogen levels rise after P60, indicating compromised glomerular filtration (J:37017)
• in contrast, urea nitrogen concentrations in urine decline after P60, suggesting a tubular dysfunction (J:37017)
• notably, a small % of homozygotes maintain normal levels of blood urea as late as P100, and exhibit only a mild renal pathology (J:37017)
• in homozygotes, blood urea nitrogen levels rise after P60, indicating compromised glomerular filtration (J:37017)
• in contrast, urea nitrogen concentrations in urine decline after P60, suggesting a tubular dysfunction (J:37017)
• notably, a small % of homozygotes maintain normal levels of blood urea as late as P100, and exhibit only a mild renal pathology (J:37017)
• relative levels of urinary protein are similar in mutant and wild-type mice until ~P40, then rise many-fold in mutant mice (J:37017)
• notably, homozygotes do NOT exhibit hematuria (J:37017)
• relative levels of urinary protein are similar in mutant and wild-type mice until ~P40, then rise many-fold in mutant mice (J:37017)
• notably, homozygotes do NOT exhibit hematuria (J:37017)
• predominant protein detected in urine is albumin (J:37017)
• predominant protein detected in urine is albumin (J:37017)

behavior/neurological
• at 2-3 months, most homozygotes become lethargic (J:37017)
• at 2-3 months, most homozygotes become lethargic (J:37017)

growth/size/body
• at 2-3 months, most homozygotes begin to loose weight (J:37017)
• at 2-3 months, most homozygotes begin to loose weight (J:37017)

hearing/vestibular/ear
• variable penetrance; 3 out of 12 pairs of mutants analyzed showed significantly increased auditory thresholds relative to wild-type (J:37017)
• other mutants showed hearing within normal ranges of thresholds and sensitivities, suggesting that the hearing loss may be due to genetic background differences (J:37017)
• variable penetrance; 3 out of 12 pairs of mutants analyzed showed significantly increased auditory thresholds relative to wild-type (J:37017)
• other mutants showed hearing within normal ranges of thresholds and sensitivities, suggesting that the hearing loss may be due to genetic background differences (J:37017)

immune system
• homozygotes exhibit late-onset, progressive glomerulonephritis, leading to renal failure (J:37017)
• homozygotes exhibit late-onset, progressive glomerulonephritis, leading to renal failure (J:37017)

cardiovascular system
• at P40, a few glomeruli exhibit patches of thickened, closed capillary loops (J:37017)
• at P40, a few glomeruli exhibit patches of thickened, closed capillary loops (J:37017)

Mouse Models of Human Disease
OMIM ID Ref(s)
Alport Syndrome, Autosomal Recessive 203780 J:37017 , J:207595


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/26/2016
MGI 6.02
The Jackson Laboratory