Phenotypes associated with this allele

• Allele Symbol: Ccdc47^tm1Hta
• Allele Name: targeted mutation 1, Hiroshi Takeshima
• Allele ID: MGI:3722141
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ccdc47^tm1Hta/Ccdc47^tm1Hta	involves: C57BL/6J	MGI:3722246

Genotype
MGI:3722246

hm1

• Allelic Composition: Ccdc47^tm1Hta/Ccdc47^tm1Hta
• Genetic Background: involves: C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:124441 )

• embryos that survive past early embryonic stages die within one day of birth

prenatal lethality, incomplete penetrance ( J:124441 )

• more than half of embryos fail to survive early stages of development

cellular

abnormal cell physiology ( J:124441 )

• calcium transients evoked bycyclopiazonic acid acid, thapsigargin, or ionomycin are reduced compared to wild-type MEFs

• average peak amplitude of store-operated calcium entry is reduced by 20-30% compared to wild-type MEFs

• however, resting calcium levels are similar to wild-type MEFs

increased fibroblast apoptosis ( J:124441 )

• increase in endoplasmic reticulum stress-induced apoptosis in MEFs