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Phenotypes Associated with This Genotype
Genotype
MGI:3510458
Allelic
Composition
Col4a3tm1Dec/Col4a3tm1Dec
Genetic
Background
129X1/SvJ-Col4a3tm1Dec
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a3tm1Dec mutation (1 available); any Col4a3 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• as early as 6 weeks, homozygotes display significant thickening of the strial capillary basement membrane (SCBM) (J:91619)
• at 7-9 weeks of age (i.e. prior to end-stage renal disease), SCBM thickening is associated with significantly elevated matrix metalloproteinases (MMP) deposition (J:98449)
• treatment with an inhibitor of MMP-2, -9, -12, and -14 exacerbates SCBM thickening, directly implicating altered basement membrane metabolism in maintaining normal SCBM composition and thickness (J:98449)
• at 7-9 weeks of age (i.e. prior to end-stage renal disease), homozygotes show matrix metalloproteinase dysregulation in the stria vascularis
• as early as 6 weeks, homozygotes display significant thickening of the strial capillary basement membrane (SCBM)
• at 6-8 weeks of age, auditory-evoked brainstem response measurements suggest a small increase in auditory thresholds across all frequencies tested with successive measurements on individual mutant mice
• homozygotes display a moderate, high frequency, progressive sensorineural hearing loss

cardiovascular system
• as early as 6 weeks, homozygotes display significant thickening of the strial capillary basement membrane (SCBM)

cellular
• as early as 6 weeks, homozygotes display significant thickening of the strial capillary basement membrane (SCBM) (J:91619)
• at 7-9 weeks of age (i.e. prior to end-stage renal disease), SCBM thickening is associated with significantly elevated matrix metalloproteinases (MMP) deposition (J:98449)
• treatment with an inhibitor of MMP-2, -9, -12, and -14 exacerbates SCBM thickening, directly implicating altered basement membrane metabolism in maintaining normal SCBM composition and thickness (J:98449)

Mouse Models of Human Disease
OMIM ID Ref(s)
Alport Syndrome, Autosomal Recessive 203780 J:91619


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory