Phenotypes Associated with This Genotype

Genotype
MGI:6886231

• Allelic Composition: P2rx2^em1Xzl/P2rx2⁺
• Genetic Background: CBA/J-P2rx2^em1Xzl

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:315007 )

N • normal cochlear morphology

N • normal inner and outer hair cell number

abnormal cochlear inner hair cell morphology ( J:315007 )

• shorter length at ages 1 and 4 months

• normal length at age P2

abnormal inner hair cell synaptic ribbon morphology ( J:315007 )

• progressively abnormal localization of ribbons towards cell nuclei in inner hair cells (IHCs) from age 1 month

• increased number of ribbons per IHC at age 4 months

• normal number of ribbons per IHC at age P2 and 1 month

increased or absent threshold for auditory brainstem response ( J:315007 , J:315007 , J:315007 )

• severe bilateral hearing loss at age 2 months, worsening at age 4 months (J:315007)

• deaf at age 6 months (J:315007)

♀ • worse hearing (increased ABR threshold) for low, medium and high frequencies at age P21 (J:315007)

♂ • worse hearing (increased ABR threshold) for high frequencies at age P21 (J:315007)

behavior/neurological

behavior/neurological phenotype ( J:315007 )

♂N • normal behavior in 2-month-old male mice (barbering, visual placing, vocalization while handling, vibrissae orienting, reaching response, reflexes)

♂N • normal locomotor and anxiety behavior in open field test in 3-month-old male mice

♂N • normal grip strength at age 3 months

impaired coordination ( J:315007 )

♂ • shorter latency to fall in accelerating rotarod test at age 2 months

♂ • longer time to cross in balance beam test at age 3 months

decreased thermal nociceptive threshold ( J:315007 )

• lower latency to nociceptive behavior in hot plate test

cellular

cellular phenotype ( J:315007 )

N • normal P2RX2 subcellular location in cultured tail fibroblasts

N • normal P2RX2 expression in inner ear

decreased dermal fibroblast proliferation ( J:315007 )

• of cultured tail fibroblasts

growth/size/body

growth/size/body region phenotype ( J:315007 )

♂N • normal body weight in 2-month-old male mice

homeostasis/metabolism

abnormal nucleotide metabolism ( J:315007 )

• reduced levels of ATP in cultured tail fibroblasts

integument

integument phenotype ( J:315007 )

♂N • normal in 2-month-old male mice (coat condition, piloerection, vibrissae orienting, full whiskers)

nervous system

abnormal cochlear inner hair cell morphology ( J:315007 )

• shorter length at ages 1 and 4 months

• normal length at age P2

abnormal inner hair cell synaptic ribbon morphology ( J:315007 )

• progressively abnormal localization of ribbons towards cell nuclei in inner hair cells (IHCs) from age 1 month

• increased number of ribbons per IHC at age 4 months

• normal number of ribbons per IHC at age P2 and 1 month

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant nonsyndromic deafness 41		DOID:0110567	OMIM:608224	J:315007