Phenotypes associated with this allele

• Allele Symbol: Smpx^em1Jgao
• Allele Name: endonuclease-mediated mutation 1, Jiangang Gao
• Allele ID: MGI:6852752
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smpx^em1Jgao/Smpx^em1Jgao	CBA/CaJ-Smpx^em1Jgao	MGI:6852759
ht2	Smpx^em1Jgao/Smpx^+	CBA/CaJ-Smpx^em1Jgao	MGI:6852761
ot3	Smpx^em1Jgao/Y	CBA/CaJ-Smpx^em1Jgao	MGI:6852756

Genotype
MGI:6852759

hm1

• 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

Genotype
MGI:6852761

ht2

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

hearing/vestibular/ear

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

♀ • auditory brainstem response threshold shifts appear at 5 months of age, to a similar extent as is homozygous females

nonsyndromic hearing loss ( J:314284 )

♀ • mice exhibit hearing loss

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

Genotype
MGI:6852756

ot3

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

hearing/vestibular/ear

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

♂ • cochlea shows progressive degeneration of hair cell bundles from the shortest row starting at P30 and by P150, outer hair cell stereocilia in the basal turn are usually completely degenerated, or if still present, they are very short and show signs of fusion

♂ • the shortest row of outer hair cell bundle in the middle and apical turn are mostly degenerated at P150

♂ • however, no changes in inner hair cell stereocilia are seen

abnormal cochlear outer hair cell morphology ( J:314284 )

♂ • outer hair cell body shows cellular edema, with edematous changes in the organelles and vacuolation of the mitochondria, at the end phase of stereocilia degeneration

cochlear outer hair cell degeneration ( J:314284 )

♂ • a large number of outer hair cell death is seen at 5 months, especially at the basal turn of the basilar membrane and with aging; cell death of outer hair cells spreads from the base to the apex and outer hair cell survival at the basal turn is decreased

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

♂ • auditory brainstem response (ABR) threshold shifts first appear in males at 3 months of age

♂ • males show a greater elevation of mean threshold than females, indicating more severe hearing loss in males than females

♂ • threshold shift appears earlier in high frequency

♂ • hearing loss gradually spreads from high to low frequency until the whole spectrum is affected by 5 months of age, with a 20 db threshold shift in 4 kHz pure tone

abnormal distortion product otoacoustic emission ( J:314284 )

♂ • mice show threshold shifts in distortion product otoacoustic emission (DPOAE) at frequency of 12, 16, 20, and 32 kHz at 3 months of age

increased susceptibility to noise-induced hearing loss ( J:314284 )

♂ • 1- to 2-month-old mice show 20-30 dB threshold shift in ABR after 2 hours of noise exposure and thresholds do not recover after one week as in wild-type mice, indicating that noise-exposure induced unrecoverable hearing loss

nonsyndromic hearing loss ( J:314284 )

♂ • mice exhibit progressive hearing loss

nervous system

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

♂ • cochlea shows progressive degeneration of hair cell bundles from the shortest row starting at P30 and by P150, outer hair cell stereocilia in the basal turn are usually completely degenerated, or if still present, they are very short and show signs of fusion

♂ • the shortest row of outer hair cell bundle in the middle and apical turn are mostly degenerated at P150

♂ • however, no changes in inner hair cell stereocilia are seen

abnormal cochlear outer hair cell morphology ( J:314284 )

♂ • outer hair cell body shows cellular edema, with edematous changes in the organelles and vacuolation of the mitochondria, at the end phase of stereocilia degeneration

cochlear outer hair cell degeneration ( J:314284 )

♂ • a large number of outer hair cell death is seen at 5 months, especially at the basal turn of the basilar membrane and with aging; cell death of outer hair cells spreads from the base to the apex and outer hair cell survival at the basal turn is decreased

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