Phenotypes associated with this allele

• Allele Symbol: Map3k4^tm1Glj
• Allele Name: targeted mutation 1, Gary L Johnson
• Allele ID: MGI:3604209
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Map3k4^tm1Glj/Map3k4^tm1Glj	involves: 129S6/SvEvTac * C57BL/6	MGI:3604811
ht2	Map3k4^tm1Glj/Map3k4^+	involves: 129S6/SvEvTac * C57BL/6	MGI:3604812

Genotype
MGI:3604811

hm1

• Allelic Composition: Map3k4^tm1Glj/Map3k4^tm1Glj
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:101350 )

• about 2/3 of homozygous pups die at birth

nervous system

abnormal neural tube morphology ( J:101350 )

• about 50% of homozygous embryos display neural tube defects

spina bifida ( J:101350 )

• about 7% of surviving homozygotes display sacral spina bifida with a curl proximal to the tail root and an open spinal cord and vertebral canal covered by skin shortly after birth

• pups that die immediately after birth have severe open spine defects and at E18.5 about 20% of homozygotes display spina bifida

craniorachischisis ( J:101350 )

• in pups that die at birth craniorrhachischisis is occasionally seen

exencephaly ( J:101350 )

• at E14.5 exencephaly is seen and increased apoptosis is seen at E9.5 in the hindbrain of all exencephalic embryos

skeleton

asymmetric sternocostal joints ( J:101350 )

• asymmetric attachment of the ribs to the sternum is seen in 75% of homozygotes

scoliosis ( J:101350 )

abnormal vertebrae morphology ( J:101350 )

• vertebral malformations including in some severely affected pups rachischisis and craniorrhachischisis

abnormal caudal vertebrae morphology ( J:101350 )

• bone remodeling is seen in the tail; however chondrogenesis is normal

embryo

abnormal neural tube morphology ( J:101350 )

• about 50% of homozygous embryos display neural tube defects

spina bifida ( J:101350 )

• about 7% of surviving homozygotes display sacral spina bifida with a curl proximal to the tail root and an open spinal cord and vertebral canal covered by skin shortly after birth

• pups that die immediately after birth have severe open spine defects and at E18.5 about 20% of homozygotes display spina bifida

craniorachischisis ( J:101350 )

• in pups that die at birth craniorrhachischisis is occasionally seen

reproductive system

oligozoospermia ( J:101350 )

♂

asthenozoospermia ( J:101350 )

♂

male infertility ( J:101350 )

♂ • surviving males are infertile

limbs/digits/tail

abnormal caudal vertebrae morphology ( J:101350 )

• bone remodeling is seen in the tail; however chondrogenesis is normal

growth/size/body

omphalocele ( J:101350 )

• in some pups that die at birth and in some embryos at E14.5 omphalocele is occasionally seen

cellular

oligozoospermia ( J:101350 )

♂

asthenozoospermia ( J:101350 )

♂

Genotype
MGI:3604812

ht2

• Allelic Composition: Map3k4^tm1Glj/Map3k4⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

nervous system

abnormal neural tube morphology ( J:101350 )

• about 25% of heterozygous embryos display neural tube defects

skeleton

abnormal sternum morphology ( J:101350 )

• in heterozygotes with asymmetric attachment of the ribs severe curvature of the sternum is seen

asymmetric sternocostal joints ( J:101350 )

• asymmetric attachment of the ribs to the sternum is seen in 5 - 8% of heterozygotes

decreased rib number ( J:101350 )

• in heterozygotes with asymmetric attachment of the ribs some ribs are absent

abnormal vertebrae morphology ( J:101350 )

embryo

abnormal neural tube morphology ( J:101350 )

• about 25% of heterozygous embryos display neural tube defects