Phenotypes associated with this allele

• Allele Symbol: Efnb2^tm1.1Henk
• Allele Name: targeted mutation 1.1, Mark Henkemeyer
• Allele ID: MGI:3051215
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Efnb2^tm1.1Henk/Efnb2^tm1.1Henk	either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)	MGI:3697437
ht2	Efnb2^tm1.1Henk/Efnb2^+	either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)	MGI:3051577
ht3	Efnb2^tm1.1Henk/Efnb2^+	involves: 129 * CD-1	MGI:3697649

Genotype
MGI:3697437

hm1

• Allelic Composition: Efnb2^tm1.1Henk/Efnb2^tm1.1Henk
• Genetic Background: either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:91492 )

• at E9 and E10, all homozygotes are visibly abnormal and necrotic

• no viable homozygotes are obtained after E10

cardiovascular system

abnormal blood vessel morphology ( J:91492 )

• at E9, homozygotes exhibit abnormal vascular structures

abnormal cardiovascular development ( J:91492 )

• at E9 and E10, homozygotes display failure of cardiovascular development

abnormal angiogenesis ( J:91492 )

• at E9, homozygotes display disrupted angiogenic remodeling

abnormal vitelline vasculature morphology ( J:91492 )

• at E9, homozygotes show obvious defects in extraembryonic (yolk sac) blood vessels

abnormal heart morphology ( J:91492 )

• at E9, homozygotes exhibit abnormal heart structures

enlarged pericardium ( J:91492 )

• at E9 and E10, homozygotes display enlarged pericardia

embryo

abnormal vitelline vasculature morphology ( J:91492 )

• at E9, homozygotes show obvious defects in extraembryonic (yolk sac) blood vessels

embryonic growth retardation ( J:91492 )

• at E9, homozygotes appear to be growth-retarded

decreased embryo size ( J:91492 )

• at E9 and E10, homozygotes are smaller than wild-type embryos

abnormal vitelline vascular remodeling ( J:91492 )

• at E9, homozygotes display remodeling defects in the blood vessels within the yolk sacs

growth/size/body

embryonic growth retardation ( J:91492 )

• at E9, homozygotes appear to be growth-retarded

decreased embryo size ( J:91492 )

• at E9 and E10, homozygotes are smaller than wild-type embryos

Genotype
MGI:3051577

ht2

• Allelic Composition: Efnb2^tm1.1Henk/Efnb2⁺
• Genetic Background: either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)

reproductive system

reproductive system phenotype ( J:91491 )

N • males do not have hypospadia unlike Efnb2^tm1Henk heterozygotes

Genotype
MGI:3697649

ht3

• Allelic Composition: Efnb2^tm1.1Henk/Efnb2⁺
• Genetic Background: involves: 129 * CD-1

behavior/neurological

head bobbing ( J:116671 )

• on a ~87.5% CD-1 background (3 backcross generations), 13.5% of adult heterozygotes exhibit rapid head bobbing

circling ( J:116671 )

• on a ~87.5% CD-1 background (3 backcross generations), 13.5% of adult heterozygotes exhibit continuous, hyperactive circling

• waltzing is first apparent at ~P10, i.e. when locomotion begins

• Background Sensitivity: on a 129 or C57BL/6 background, adult heterozygotes appear normal with no vestibular dysfunction

hearing/vestibular/ear

decreased posterior semicircular canal size ( J:116671 )

• on a CD-1 background, adult heterozygotes show a >50% decrease in the mean cross-sectional area of posterior vertical canals relative to wild-type

decreased superior semicircular canal size ( J:116671 )

• on a CD-1 background, adult heterozygotes show a >50% decrease in the mean cross-sectional area of anterior vertical canals relative to wild-type

small endolymphatic duct ( J:116671 )

• on a CD-1 background, endolymph-filled membranous ducts are severely reduced

abnormal endolymph physiology ( J:116671 )

• on a CD-1 background, reduced endolymph-filled lumens lead to a significant reduction in the flow of endolymph fluid through the semicircular canals