Phenotypes Associated with This Genotype

Genotype
MGI:3510458

• Allelic Composition: Col4a3^tm1Dec/Col4a3^tm1Dec
• Genetic Background: 129X1/SvJ-Col4a3^tm1Dec

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

hearing/vestibular/ear

abnormal cochlear basement membrane morphology ( J:91619 , J:98449 )

• 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)

abnormal stria vascularis morphology ( 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

abnormal stria vascularis vasculature morphology ( J:91619 )

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

increased or absent threshold for auditory brainstem response ( J:91619 )

• 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

sensorineural hearing loss ( J:91619 )

• homozygotes display a moderate, high frequency, progressive sensorineural hearing loss

cardiovascular system

abnormal stria vascularis vasculature morphology ( J:91619 )

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

cellular

abnormal cochlear basement membrane morphology ( J:91619 , J:98449 )

• 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		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive Alport syndrome		DOID:0110033	OMIM:203780	J:91619