Phenotypes associated with this allele

• Allele Symbol: hml
• Allele Name: hypoplasia of the membranous labyrinth
• Allele ID: MGI:3576616
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	hml/hml	CByJ.Cg-hml/J	MGI:5284727
ht2	hml/hml^+	CByJ.Cg-hml/J	MGI:5284858

Genotype
MGI:5284727

hm1

• Allelic Composition: hml/hml
• Genetic Background: CByJ.Cg-hml/J

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

hearing/vestibular/ear

abnormal inner ear morphology ( J:175136 )

abnormal Reissner membrane morphology ( J:175136 )

• Reissner membrane is significantly reduced in size

abnormal basilar membrane morphology ( J:175136 )

• the basilar membrane is significantly reduced in size

small scala tympani ( J:175136 )

• the scala tympani is significantly reduced in size

abnormal scala vestibuli morphology ( J:175136 )

• the scala vestibuli is greatly enlarged

abnormal membranous labyrinth morphology ( J:175136 )

• extensive hypoplasia of the membranous labyrinth

abnormal stria vascularis morphology ( J:175136 )

• the stria vaxcularis is significantly reduced in size

abnormal tectorial membrane morphology ( J:175136 )

• rudimentary tectorial membrane

small scala media ( J:175136 )

• the scala media is significantly reduced in size

increased or absent threshold for auditory brainstem response ( J:175136 )

• 21 of 24 tested at 19 days of age had no ABR response at maximal stimuli

impaired hearing ( J:175136 )

• homozygotes fail to respond to tapping or clicking sounds

deafness ( J:175136 )

• 21 of 24 animals tested at 19 days of age were categorized as deaf by absence of an ABR response at maximum stimuli

behavior/neurological

impaired righting response ( J:175136 )

• when positioned on their backs it takes up to a minute for them to right themselves

impaired swimming ( J:175136 )

• homozygotes fail to orient in water

abnormal gait ( J:175136 )

• unbalanced gait detectable by 10 days of age

growth/size/body

decreased body size ( J:175136 )

• smaller body size and failure to thrive behavior become can be detected as early as 10 days of age

mortality/aging

premature death ( J:175136 )

• there is significant loss of homozygotes through 2 months of age, after which they can live up to 18 months of age

perinatal lethality, incomplete penetrance ( J:175136 )

postnatal lethality, incomplete penetrance ( J:175136 )

reproductive system

infertility ( J:175136 )

• neither females nor males breed although the sperm shape and activity appear normal

female infertility ( J:175136 )

♀

male infertility ( J:175136 )

♂

Genotype
MGI:5284858

ht2

• Allelic Composition: hml/hml⁺
• Genetic Background: CByJ.Cg-hml/J

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:175136 )

N • at 4 months of age the inner ear structure is normal by light microscopic analysis