Phenotypes associated with this allele

• Allele Symbol: Atp2b2^Elfin
• Allele Name: Elfin
• Allele ID: MGI:5554594
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp2b2^Elfin/Atp2b2^Elfin	involves: C3H/HeJ * C57BL/6J	MGI:5554596
ht2	Atp2b2^Elfin/Atp2b2^+	involves: C3H/HeJ * C57BL/6J	MGI:5554597

Genotype
MGI:5554596

hm1

• Allelic Composition: Atp2b2^Elfin/Atp2b2^Elfin
• Genetic Background: involves: C3H/HeJ * C57BL/6J

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

hearing/vestibular/ear

organ of Corti degeneration ( J:196569 )

• severe at 3 weeks

abnormal inner ear vestibule morphology ( J:196569 )

absent vestibular hair cells ( J:196569 )

• in the saccule

abnormal vestibular saccule morphology ( J:196569 )

• missing calcium carbonate crystals

increased or absent threshold for auditory brainstem response ( J:196569 )

• absent at 3 weeks

behavior/neurological

limb grasping ( J:196569 )

ataxia ( J:196569 )

• severe

impaired balance ( J:196569 )

• while standing or walking

growth/size/body

decreased body weight ( J:196569 )

nervous system

absent vestibular hair cells ( J:196569 )

• in the saccule

Genotype
MGI:5554597

ht2

• Allelic Composition: Atp2b2^Elfin/Atp2b2⁺
• Genetic Background: involves: C3H/HeJ * C57BL/6J

hearing/vestibular/ear

abnormal outer hair cell stereociliary bundle morphology ( J:196569 )

• disruption of the dense plate at the base of stereocilia

cochlear outer hair cell degeneration ( J:196569 )

• at 2 month due to apoptosis

organ of Corti degeneration ( J:196569 )

• in the basal turn of the cochlea with decreased degeneration towards the apex at 4 months

increased or absent threshold for auditory brainstem response ( J:196569 )

• beginning at 4 weeks, progressive

impaired hearing ( J:196569 )

• severe and progressive

nervous system

abnormal outer hair cell stereociliary bundle morphology ( J:196569 )

• disruption of the dense plate at the base of stereocilia

cochlear outer hair cell degeneration ( J:196569 )

• at 2 month due to apoptosis

cochlear ganglion degeneration ( J:196569 )

• in the basal turn of the cochlea with decreased degeneration towards the apex at 4 months