Phenotypes associated with this allele

• Allele Symbol: Mkks^{Gt(OST367255)Lex}
• Allele Name: gene trap OST367255, Lexicon Genetics
• Allele ID: MGI:3608879
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mkks^Gt(OST367255)Lex/Mkks^Gt(OST367255)Lex	involves: 129S5/SvEvBrd * C57BL/6J	MGI:3608969
cx2	Vangl2^Lp/Vangl2^+ Mkks^Gt(OST367255)Lex/Mkks^+	involves: 129S5/SvEvBrd * C57BL/6J * LPT/LeJ	MGI:3608972

Genotype
MGI:3608969

hm1

• Allelic Composition: Mkks^{Gt(OST367255)Lex}/Mkks^{Gt(OST367255)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

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

behavior/neurological

absent pinna reflex ( J:102697 )

• about 50% of homozygotes lack a pinna reflex; however the morphology of middle and outer ear is normal

hearing/vestibular/ear

abnormal inner hair cell kinocilium location or orientation ( J:102697 )

• at E18.5, the kinocilium is located at a greater distance from the sterocilia in flattened bundles than in normal bundles

abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )

• some outer hair cell stereociliary hair bundles are misoriented or have a flattened shape

absent distortion product otoacoustic emissions ( J:102697 )

• about 47% of homozygotes (all lacking a pinna reflex) have no response when distortion product otoacoustic emissions are measured

taste/olfaction

abnormal olfactory epithelium morphology ( J:102697 )

• severe reduction of the ciliated olfactory epithelium

anosmia ( J:102697 )

• homozygotes are less able to find hidden food suggesting partial or complete anosmia

nervous system

abnormal inner hair cell kinocilium location or orientation ( J:102697 )

• at E18.5, the kinocilium is located at a greater distance from the sterocilia in flattened bundles than in normal bundles

abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )

• some outer hair cell stereociliary hair bundles are misoriented or have a flattened shape

exencephaly ( J:102697 )

• at E9.5 - E12.5, 14% of homozygotes display midbrain exencephaly

vision/eye

eyelids open at birth ( J:102697 )

• at E18.5 all homozygotes with exencephaly also have open eyelids

increased susceptibility to age-related retinal degeneration ( J:102697 )

• progressive retinal degeneration

respiratory system

abnormal olfactory epithelium morphology ( J:102697 )

• severe reduction of the ciliated olfactory epithelium

craniofacial

abnormal olfactory epithelium morphology ( J:102697 )

• severe reduction of the ciliated olfactory epithelium

cellular

abnormal inner hair cell kinocilium location or orientation ( J:102697 )

• at E18.5, the kinocilium is located at a greater distance from the sterocilia in flattened bundles than in normal bundles

growth/size/body

abnormal olfactory epithelium morphology ( J:102697 )

• severe reduction of the ciliated olfactory epithelium

Genotype
MGI:3608972

cx2

• Allelic Composition: Vangl2^Lp/Vangl2⁺; Mkks^{Gt(OST367255)Lex}/Mkks⁺
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J * LPT/LeJ

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:102697 )

• all double heterozygotes die by E13.5

hearing/vestibular/ear

abnormal outer hair cell stereociliary bundle morphology ( J:102697 )

• some outer hair cell stereociliary hair bundles have a flattened shape

abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )

• some outer hair cell stereociliary hair bundles are misoriented

nervous system

abnormal outer hair cell stereociliary bundle morphology ( J:102697 )

• some outer hair cell stereociliary hair bundles have a flattened shape

abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )

• some outer hair cell stereociliary hair bundles are misoriented