Phenotypes associated with this allele

• Allele Symbol: Slc26a4^loop
• Allele Name: loop
• Allele ID: MGI:3574673
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc26a4^loop/Slc26a4^loop	C3HeB/FeJ-Slc26a4^loop	MGI:5617743
hm2	Slc26a4^loop/Slc26a4^loop	involves: C3HeB/FeJ	MGI:4829686

Genotype
MGI:5617743

hm1

• Allelic Composition: Slc26a4^loop/Slc26a4^loop
• Genetic Background: C3HeB/FeJ-Slc26a4^loop

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

endocrine/exocrine glands

abnormal thyroid gland morphology ( J:216847 )

• mice show a majority of atrophic microfollicles that are dispersed and detached from one another

• however, thyroid size is normal and serum-free T3 and free T4 levels are normal

abnormal thyroid follicle morphology ( J:216847 )

• reduction in the follicular area of the thyroid

• atrophic colloid and follicular cells

hearing/vestibular/ear

abnormal inner ear morphology ( J:216847 )

• mice exhibit reduced calcification of the inner ear bones at P15

abnormal cochlea morphology ( J:216847 )

• hyperplastic changes are seen within the greater epithelial ridge

• the increased cell number in the greater epithelial ridge is followed by hypertrophic changes with enlarged cell surface

• maker analysis indicates impaired maturation of the cochlea

abnormal cochlear sensory epithelium morphology ( J:216847 )

• the specialized sensory epitheliums of the cochlea show greater resistance against the stretching forces of the hydrops pressure

abnormal cochlear hair cell stereociliary bundle morphology ( J:216847 )

• structure of stereocilia bundles of the sensory cells ranges from mildly disorganized to greatly deteriorated and complete absence of the bundle

cochlear hair cell degeneration ( J:216847 )

• sensory epithelium shows massive destruction of inner and outer hair cells

cochlear inner hair cell degeneration ( J:216847 )

• inner hair cell degeneration gradient occurs from the base to the apex

cochlear outer hair cell degeneration ( J:216847 )

• outer hair cell degeneration gradient progresses from apex to base

abnormal tectorial membrane morphology ( J:216847 )

• the swollen tectorial membrane shows loose connective collagen bundles with an atypical basket-weave appearance

enlarged tectorial membrane ( J:216847 )

• tectorial membrane is enlarged and thicker in all regions of the cochlea

dilated endolymphatic duct ( J:216847 )

• hydrops of endolymphatic compartments

• organ of Corti maintains its normal width despite the tension generated by the scala media hydrops

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:216847 )

• structure of stereocilia bundles of the sensory cells ranges from mildly disorganized to greatly deteriorated and complete absence of the bundle

cochlear hair cell degeneration ( J:216847 )

• sensory epithelium shows massive destruction of inner and outer hair cells

cochlear inner hair cell degeneration ( J:216847 )

• inner hair cell degeneration gradient occurs from the base to the apex

cochlear outer hair cell degeneration ( J:216847 )

• outer hair cell degeneration gradient progresses from apex to base

Genotype
MGI:4829686

hm2

• Allelic Composition: Slc26a4^loop/Slc26a4^loop
• Genetic Background: involves: C3HeB/FeJ

Gross malformation of the vestibular gravity receptor in Slc26a4^loop/Slc26a4^loop mice

hearing/vestibular/ear

abnormal semicircular canal morphology ( J:163655 )

• abnormal giant minerals are not restricted to their native position and are often observed in ectopic regions including the semicircular canals and their cristae

abnormal crista ampullaris morphology ( J:163655 )

abnormal inner ear vestibule morphology ( J:163655 )

abnormal utricle morphology ( J:163655 )

• one and several giant stones are found at all ages examined

abnormal vestibular saccule morphology ( J:163655 )

• at P0, calcite minerals are detected

abnormal otolithic membrane morphology ( J:163655 )

• the otoconial membrane that natively supports the otoconia load is degenerated

absent otoliths ( J:163655 )

• mutant lacks the calcitic otoconia of the utricle and saccule

increased or absent threshold for auditory brainstem response ( J:163655 )

• profoundly deaf at all frequencies tested

deafness ( J:163655 )

abnormal vestibular system physiology ( J:163655 )

• unsteady gait, circling, absence of reaching response, and tilted body.

behavior/neurological

absent pinna reflex ( J:163655 )

abnormal gait ( J:163655 )

circling ( J:163655 )