Phenotypes associated with this allele

• Allele Symbol: Zc4h2^em1.1Yqd
• Allele Name: endonuclease-mediated mutation 1.1, Yu-qiang Ding
• Allele ID: MGI:6455141
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zc4h2^em1.1Yqd/Zc4h2^em1.1Yqd	involves: C57BL/6 * FVB	MGI:6477266
ht2	Zc4h2^em1.1Yqd/Zc4h2^+	involves: C57BL/6 * FVB	MGI:6477264
ot3	Zc4h2^em1.1Yqd/Y	involves: C57BL/6 * FVB	MGI:6477265

Genotype
MGI:6477266

hm1

• Allelic Composition: Zc4h2^em1.1Yqd/Zc4h2^em1.1Yqd
• Genetic Background: involves: C57BL/6 * FVB

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

mortality/aging

neonatal lethality, complete penetrance ( J:291948 )

♀ • homozygous female pups die after birth

nervous system

abnormal spinal cord morphology ( J:291948 )

♀ • at E10.5, homozygous female embryos show altered progenitor and post-mitotic neuron domains in the ventral spinal cord

♀ • the Nkx2.2+ Vp3 domain is expanded dorsally whereas the Olig2+ pMN domain is reduced

♀ • the Nkx6.1+ Vp2 domain located dorsal to the Nkx6.1+/Olig2+ pMN domain is almost completely lost

♀ • the medial Dbx1+ Vp0 domain is increased and expanded ventrally, leaving the Vp1 domain (the gap region between the Dbx1+ Vp0 and Nkx6.1+ Vp2 domains) significantly reduced

decreased motor neuron number ( J:291948 )

♀ • at E10.5, the number of Hb9+ motor neurons is decreased, consistent with the reduction of the Olig2+ pMN domain

abnormal ventral interneuron morphology ( J:291948 )

♀ • similar alterations to those seen at E10.5 in post-mitotic spinal neurons are noted in the ventral spinal cord at E12.5

abnormal ventral interneuron 0 morphology ( J:291948 )

• the number of Evx1+ V0 neurons generated from the Vp0 domain is significantly increased at E10.5

abnormal ventral interneuron 1 morphology ( J:291948 )

• the number of En1+ V1 post-mitotic neurons produced from the Vp1 domain is significantly reduced at E10.5

abnormal ventral interneuron 2 morphology ( J:291948 )

• Vsx2+ V2a neurons generated from the Vp2 domain are absent at E10.5

abnormal ventral interneuron 3 morphology ( J:291948 )

• at E10.5, the number of Sim1+ V3 neurons generated from the Vp3 domain is dramatically increased

skeleton

skeleton phenotype ( J:291948 )

♀N • limbs show normal skeleton patterning

Genotype
MGI:6477264

ht2

• Allelic Composition: Zc4h2^em1.1Yqd/Zc4h2⁺
• Genetic Background: involves: C57BL/6 * FVB

mortality/aging

decreased survivor rate ( J:291948 )

♀ • ~50% of heterozygous females fail to survive to adult stage

premature death ( J:291948 )

♀ • although heterozygous female mice are born at the expected Mendelian ratio, ~50% of them fail to survive to adult stage

growth/size/body

postnatal growth retardation ( J:291948 )

♀ • ~50% of heterozygous females display postnatal developmental delay

nervous system

abnormal spinal cord morphology ( J:291948 )

♀ • at E10.5, some heterozygous female embryos show defective patterning of progenitor domains in the ventral spinal cord, with an expanded Nkx2.2+ Vp3 domain and a reduced Olig2+ pMN domain and Vp2 domain, similar to homozygous female and hemizygous male embryos

♀ • interestingly, some Olig2+ neurons are scattered ventrally with a location similar to that in control embryos

Genotype
MGI:6477265

ot3

• Allelic Composition: Zc4h2^em1.1Yqd/Y
• Genetic Background: involves: C57BL/6 * FVB

mortality/aging

neonatal lethality, complete penetrance ( J:291948 )

♂ • hemizygous male pups die after birth

nervous system

abnormal spinal cord morphology ( J:291948 )

♂ • at E10.5, hemizygous male embryos show alterations in progenitor and post-mitotic neuron domains in the ventral spinal cord that are identical to those observed in homozygous female embryos

decreased motor neuron number ( J:291948 )

♂

abnormal spinal cord interneuron morphology ( J:291948 )

♂

skeleton

skeleton phenotype ( J:291948 )

♂N • limbs show normal skeleton patterning