All Phenotypes Efnb1<tm1Rha> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Efnb1^tm1Rha/Efnb1^tm1Rha	involves: 129P2/OlaHsd	MGI:3713239
ht2	Efnb1^tm1Rha/Efnb1⁺	involves: 129P2/OlaHsd	MGI:3713238
cn3	Efnb1^tm1Rha/Y Tg(Pgk1-cre)1Lni/?	involves: 129P2/OlaHsd * BALB/c * C57BL/6	MGI:3713240
cn4	Efnb1^tm1Rha/Efnb1⁺ Tg(Pgk1-cre)1Lni/?	involves: 129P2/OlaHsd * BALB/c * C57BL/6	MGI:3713241
cn5	Efnb1^tm1Rha/Efnb1⁺ Tg(Prrx1-cre)1Cjt/?	involves: 129P2/OlaHsd * C57BL/6J * SJL/J	MGI:3713244
ot6	Efnb1^tm1Rha/Y	involves: 129P2/OlaHsd	MGI:3713237

Allelic Composition	Efnb1^tm1Rha/Efnb1^tm1Rha
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1^tm1Rha mutation (4 available); any Efnb1 mutation (15 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:110732 )

• about 10% of mice die within 24 hours of birth

craniofacial

cleft palate ( J:110732 )

digestive/alimentary system

cleft palate ( J:110732 )

growth/size/body

cleft palate ( J:110732 )

Allelic Composition	Efnb1^tm1Rha/Efnb1⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1^tm1Rha mutation (4 available); any Efnb1 mutation (15 available)

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

skeleton

sternebra fusion ( J:110732 )

• fusion occurs in 1 of 7 mice

asymmetric rib joints ( J:110732 )

• in 2 of 7 mice

limbs/digits/tail

preaxial polydactyly ( J:110732 )

• 10% of mice have preaxial polydactyly

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:110732 )

• only 15% of expected males reach weaning

reproductive system

reproductive system phenotype ( J:110732 )

N	• the few surviving males are fertile

limbs/digits/tail

abnormal autopod morphology ( J:110732 )

• at E12, extra cartilaginous elements are present

abnormal carpal bone morphology ( J:110732 )

• ectopic ossifications form in 4 of 5 adults typically in the posterior limbs and either attached to or in close proximity to triquatral and harnate bone

fused carpal bones ( J:110732 )

• distal carpal bones are fused

polydactyly ( J:110732 )

• almost exclusively of digits I or II and often associated with syndactyly

polysyndactyly ( J:110732 )

skeleton

abnormal carpal bone morphology ( J:110732 )

• ectopic ossifications form in 4 of 5 adults typically in the posterior limbs and either attached to or in close proximity to triquatral and harnate bone

fused carpal bones ( J:110732 )

• distal carpal bones are fused

abnormal axial skeleton morphology ( J:110732 )

decreased cranium height ( J:110732 )

• at E14.5

abnormal sternebra morphology ( J:110732 )

• at E15.5, 2 sternal bands are incomplete

• condensing mesenchyme (collagen2a+) in sternal bands is diffuse and poorly delineated

sternebra fusion ( J:110732 )

• sternebra are fused in 6 of 11 mice

• ossification centers for sternal segments are expanded and fused regardless of proper rib pairing

asymmetric sternocostal joints ( J:110732 )

• at E18.5, 5 of 11 mice have asymmetric rib pairing

• sternocostal junctions are abnormally positioned and fused in 6 of 11 mice

short sternum ( J:110732 )

abnormal cartilage development ( J:110732 )

• cartilages corresponding to the distal carpal bones are delayed or sometimes impaired

abnormal bone ossification ( J:110732 )

• ossification centers in the ribs for sternal segments are expanded and fused in 6 of 11 mice

craniofacial

decreased cranium height ( J:110732 )

• at E14.5

cleft palate ( J:110732 )

• at E14.5

homeostasis/metabolism

edema ( J:110732 )

• in the back region at E14.5

digestive/alimentary system

cleft palate ( J:110732 )

• at E14.5

growth/size/body

cleft palate ( J:110732 )

• at E14.5

omphalocele ( J:110732 )

• at E14.5, the body wall is incompletely closed

Allelic Composition	Efnb1^tm1Rha/Efnb1⁺ Tg(Pgk1-cre)1Lni/?
Genetic Background	involves: 129P2/OlaHsd * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1^tm1Rha mutation (4 available); any Efnb1 mutation (15 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:110732 )

• only 1-2% of females survived past weaning

skeleton

abnormal carpal bone morphology ( J:110732 )

• ectopic ossifications form in 1 of 5 adults

fused carpal bones ( J:110732 )

• distal carpal bones are fused

asymmetric rib joints ( J:110732 )

• at E18.5, in 3 of 8 mice and to a lesser extent than in hemizygous Efnb1^tm1Rha Tg(Pgk1-cre)1Lni males

abnormal cartilage development ( J:110732 )

• cartilages corresponding to the distal carpal bones are delayed or sometimes impaired

limbs/digits/tail

abnormal carpal bone morphology ( J:110732 )

• ectopic ossifications form in 1 of 5 adults

fused carpal bones ( J:110732 )

• distal carpal bones are fused

polydactyly ( J:110732 )

• 75% of females exhibit polydactyly

growth/size/body

omphalocele ( J:110732 )

• at E14.5, the body wall is incompletely closed in all embryosat E14.5, the body wall is incompletely closed in all embryos

Allelic Composition	Efnb1^tm1Rha/Efnb1⁺ Tg(Prrx1-cre)1Cjt/?
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1^tm1Rha mutation (4 available); any Efnb1 mutation (15 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)

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

limbs/digits/tail

polydactyly ( J:110732 )

Allelic Composition	Efnb1^tm1Rha/Y
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1^tm1Rha mutation (4 available); any Efnb1 mutation (15 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:110732 )

• about 10% of mice die within 24 hours of birth

craniofacial

cleft palate ( J:110732 )

digestive/alimentary system

cleft palate ( J:110732 )

growth/size/body

cleft palate ( J:110732 )

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