Phenotypes associated with this allele

• Allele Symbol: Efnb3^lltw
• Allele Name: lilting walker
• Allele ID: MGI:5578532
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Efnb3^lltw/Efnb3^lltw	C57BL/6J-Efnb3^lltw/GrsrJ	MGI:5660387
hm2	Efnb3^lltw/Efnb3^lltw	involves: C3H/HeSnJ * C57BL/6J	MGI:5660395

Genotype
MGI:5660387

hm1

• Allelic Composition: Efnb3^lltw/Efnb3^lltw
• Genetic Background: C57BL/6J-Efnb3^lltw/GrsrJ

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

Ataxia of a Efnb3^lltw/Efnb3^lltw mouse

behavior/neurological

impaired righting response ( J:223790 )

• as early as 12 days of age homozygotes have difficulty righting themselves

ataxia ( J:223790 )

• homozygotes display an extreme leaning gait although H&E staining of serial sections of the cerebellum from one 21-week-old female did not reveal any abnormalities

mortality/aging

mortality/aging ( J:223790 )

N • Background Sensitivity: On the C57BL/6J background intercrosses of heterozgyotes generate the expected Mendelian ratio of homozygotes and unaffected siblings.

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:223790 )

N • ABR assessment on 2 homozygotes at approximately 8 weeks of age found no hearing impairment

vision/eye

vision/eye phenotype ( J:223790 )

N • ophthalmoscopy of 2 male homozygotes at approximately 12 weeks of age found no eye defects

Genotype
MGI:5660395

hm2

• Allelic Composition: Efnb3^lltw/Efnb3^lltw
• Genetic Background: involves: C3H/HeSnJ * C57BL/6J

behavior/neurological

impaired righting response ( J:223790 )

ataxia ( J:223790 )

• homozygotes on this segregating background also have a severe leaning gait

mortality/aging

prenatal lethality, incomplete penetrance ( J:223790 )

• In this F2 mapping cross only 11 of 157 offspring from heterozygotes (7%) display the ataxic phenotype indicative of prenatal lethality