Phenotypes associated with this allele

• Allele Symbol: Copb2^em1Rstot
• Allele Name: endonuclease-mediated mutation 1, Rolf W Stottmann
• Allele ID: MGI:6107885
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Copb2^em1Rstot/Copb2^em1Rstot	involves: C57BL/6J * DBA/2	MGI:6107888
ht2	Copb2^em1Rstot/Copb2^em2Rstot	involves: C57BL/6 * C57BL/6J * CD-1 * DBA/2	MGI:6107893

Genotype
MGI:6107888

hm1

• Allelic Composition: Copb2^em1Rstot/Copb2^em1Rstot
• Genetic Background: involves: C57BL/6J * DBA/2

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

mortality/aging

embryonic lethality between implantation and placentation ( J:252710 )

• no embryos are recovered at E7.5 - E10.5 or E11.5 - E18.5

Genotype
MGI:6107893

ht2

• Allelic Composition: Copb2^em1Rstot/Copb2^em2Rstot
• Genetic Background: involves: C57BL/6 * C57BL/6J * CD-1 * DBA/2

mortality/aging

preweaning lethality, incomplete penetrance ( J:252710 )

• fewer than expected mice are found at birth

• in one litter all 4 heterozygotes survived the perinatal period but were morbid at P19

nervous system

increased neuron apoptosis ( J:252710 )

• increased cell death in the cortex, hippocampus, midbrain, cerebellum and hindbrain at P0-P3

abnormal neuron proliferation ( J:252710 )

• neurospheres produce fewer cells in culture

increased neuronal precursor proliferation ( J:252710 )

• slight but significant increase in proliferation in the neurogenic ventricular zone

decreased brain weight ( J:252710 )

abnormal cerebral cortex morphology ( J:252710 )

• decreased cortical area

• 32% decrease in the later-born CTIP2-positive neurons in layer V

behavior/neurological

abnormal suckling behavior ( J:252710 )

• typically lack a milk spot at P0 and P1

growth/size/body

decreased birth body size ( J:252710 )

• small and sickly at birth

cellular

increased neuron apoptosis ( J:252710 )

• increased cell death in the cortex, hippocampus, midbrain, cerebellum and hindbrain at P0-P3

abnormal neuron proliferation ( J:252710 )

• neurospheres produce fewer cells in culture

increased neuronal precursor proliferation ( J:252710 )

• slight but significant increase in proliferation in the neurogenic ventricular zone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microcephaly		DOID:10907		J:252710