Phenotypes associated with this allele

• Allele Symbol: Donson^em1Anpj
• Allele Name: endonuclease-mediated mutation 1, Andrew P Jackson
• Allele ID: MGI:7565622
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Donson^em1Anpj/Donson^em1Anpj	involves: C57BL/6 * CBA * CD-1	MGI:7567433

Genotype
MGI:7567433

hm1

• Allelic Composition: Donson^em1Anpj/Donson^em1Anpj
• Genetic Background: involves: C57BL/6 * CBA * CD-1

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

growth/size/body

microcephaly ( J:343338 )

decreased body size ( J:343338 )

limbs/digits/tail

short limbs ( J:343338 )

homeostasis/metabolism

abnormal DNA replication ( J:343338 )

• embryonic stem cells and embryonic fibroblasts exhibit defective CMG (Cdc45-MCM2-7-GINS) helicase assembly, showing increased inter-origin distance, and reduced fork velocity and cell proliferation indicating a deficit in functional replisomes and embryonic stem cells have decreased chromatin-bound CDC45 and GINS levels

• the replication initiation phenotypes are not due to defective checkpoint signaling

cellular

abnormal DNA replication ( J:343338 )

• embryonic stem cells and embryonic fibroblasts exhibit defective CMG (Cdc45-MCM2-7-GINS) helicase assembly, showing increased inter-origin distance, and reduced fork velocity and cell proliferation indicating a deficit in functional replisomes and embryonic stem cells have decreased chromatin-bound CDC45 and GINS levels

• the replication initiation phenotypes are not due to defective checkpoint signaling