Phenotypes associated with this allele

• Allele Symbol: Dux^em1Ditr
• Allele Name: endonuclease-mediated mutation 1, Didier Trono
• Allele ID: MGI:6392158
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dux^em1Ditr/Dux^em1Ditr	involves: C57BL/6 * DBA/2	MGI:6472874

Genotype
MGI:6472874

hm1

• Allelic Composition: Dux^em1Ditr/Dux^em1Ditr
• Genetic Background: involves: C57BL/6 * DBA/2

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:284179 )

• a subset of embryos derived from homozygous crosses die around birth

• perinatal lethality is rescued when homozygous mutant females are crossed with wild-type males

preweaning lethality, incomplete penetrance ( J:284179 )

• homozygous mutant pups born from heterozygous crosses are obtained at slightly lower than expected frequencies

• however, adult homozygous mutant mice appear healthy and exhibit a normal lifespan

reproductive system

failure of embryo implantation ( J:284179 )

• ex vivo, a subset of embryos derived from homozygous crosses fail to implant

delayed parturition ( J:284179 )

♀ • crosses between homozygous mutant mice result in delayed delivery

decreased litter size ( J:284179 )

• crosses between homozygous mutant mice result in a significantly reduced litter size

• however, litter size is normal when wild-type females are bred with homozygous mutant males or when homozygous mutant females are bred with wild-type males

embryo

abnormal preimplantation embryo development ( J:284179 )

• ex vivo, embryos derived from homozygous crosses start dividing faster at E1.5, show an unusual transition from the 2-cell to the 4-cell stage with a 3-cell intermediate structure, appear partially blocked at E2.0, and are clearly delayed in blastocyst formation with a subset of embryos showing increased levels of lethality at E3.5, E4.0 and E4.5

abnormal blastocyst formation ( J:284179 )

• ex vivo, a subset of embryos derived from homozygous crosses show significantly reduced blastocyst formation at E3.5, with only 65% reaching the blastocyst stage by E4.5 relative to 100% in wild-type controls

behavior/neurological

pup cannibalization ( J:284179 )

• some of the rare pups born from homozygous crosses are eaten by their mother after delivery, probably because they are stillborn or because they exhibit physical defects