Phenotypes Associated with This Genotype

Genotype
MGI:6852759

• Allelic Composition: Smpx^em1Jgao/Smpx^em1Jgao
• Genetic Background: CBA/CaJ-Smpx^em1Jgao

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

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:314284 )

♀ • stereocilia degeneration starts at P150 and degeneration process is milder than in males

♀ • the shortest row of outer hair cell stereocilia begin to degenerate in the basal turn, but are normal at middle and apical turns

increased or absent threshold for auditory brainstem response ( J:314284 )

♀ • auditory brainstem response threshold shifts first appear in females at 5 months of age

♀ • females show a milder elevation of mean threshold than males, indicating less severe hearing loss in females than in males

nonsyndromic hearing loss ( J:314284 )

♀ • mice exhibit progressive hearing loss

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:314284 )

♀ • stereocilia degeneration starts at P150 and degeneration process is milder than in males

♀ • the shortest row of outer hair cell stereocilia begin to degenerate in the basal turn, but are normal at middle and apical turns

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked deafness 4		DOID:0111735	OMIM:300066	J:314284