Mouse Genome Informatics
hm
    Col4a3tm1Dec/Col4a3tm1Dec
129X1/SvJ-Col4a3tm1Dec
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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)

other phenotype
• 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 IDRef(s)
Alport Syndrome, Autosomal Recessive 203780 J:91619