Phenotypes Associated with This Genotype

Genotype
MGI:2669172

• Allelic Composition: Trpv4^tm1Msz/Trpv4^tm1Msz
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

behavior/neurological

abnormal sensory capabilities/reflexes/nociception ( J:84093 )

• ability to detect heat not altered

abnormal response to tactile stimuli ( J:84093 )

• significantly reduced response to pressure on the tail

• threshold response of the femoral nerve to pressure was increased

• absence of pressure sensitive C-fiber

increased chemical nociceptive threshold ( J:84093 )

• reduced frequency of writhing for 10 minutes after application of acetic acid to the abdomen

• avoidance of noxious odors unaltered

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:104851 )

• at 24 weeks, homozygotes display significantly elevated ABR thresholds, with no detectable changes in DPOAE amplitudes relative to wild-type mice

• however, at 24 weeks, the stria vascularis, cochlear IHCs and OHCs, and spiral ganglion cells are morphologically normal with no significant changes in cell density

• no significant differences in ABR thresholds or DPOAE amplitudes are noted at 8 weeks of age

increased susceptibility to noise-induced hearing loss ( J:104851 )

• at 1 week after acoustic overexposure (128 dB SPL), homozygotes exhibit a significantly greater ABR threshold shift, albeit with no differences in IHC and OHC loss relative to wild-type mice

impaired hearing ( J:104851 )

• homozygotes display delayed-onset hearing loss, as assessed by ABR measurements at 24 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant nonsyndromic deafness 25		DOID:0110555	OMIM:605583	J:104851