Phenotypes associated with this allele

• Allele Symbol: Dph1^em1Swei
• Allele Name: endonuclease-mediated mutation 1, Shuo Wei
• Allele ID: MGI:7645689
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Dph1^em1Swei/Dph1^em2Swei	C57BL/6J-Dph1^em1Swei Dph1^em2Swei	MGI:7645771
cx2	Cdkn1a^em1Swei/Cdkn1a^+ Dph1^em1Swei/Dph1^em2Swei	involves: C57BL/6	MGI:7645772

Genotype
MGI:7645771

ht1

• Allelic Composition: Dph1^em1Swei/Dph1^em2Swei
• Genetic Background: C57BL/6J-Dph1^em1Swei Dph1^em2Swei

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

craniofacial

short Meckel's cartilage ( J:347602 )

• in embryos

small mandible ( J:347602 )

• in embryos

palatal shelves fail to meet at midline ( J:347602 )

• palatal shelves extend downwards in E14.5 embryos

• palatal shelves not fused in E15.5 embryos

digestive/alimentary system

palatal shelves fail to meet at midline ( J:347602 )

• palatal shelves extend downwards in E14.5 embryos

• palatal shelves not fused in E15.5 embryos

embryo

decreased embryo size ( J:347602 )

• from stage E10.5

growth/size/body

palatal shelves fail to meet at midline ( J:347602 )

• palatal shelves extend downwards in E14.5 embryos

• palatal shelves not fused in E15.5 embryos

decreased embryo size ( J:347602 )

• from stage E10.5

mortality/aging

prenatal lethality, complete penetrance ( J:347602 )

skeleton

short Meckel's cartilage ( J:347602 )

• in embryos

small mandible ( J:347602 )

• in embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
diphthamide deficiency syndrome 1		DOID:0070477	OMIM:616901	J:347602

Genotype
MGI:7645772

cx2

• Allelic Composition: Cdkn1a^em1Swei/Cdkn1a⁺; Dph1^em1Swei/Dph1^em2Swei
• Genetic Background: involves: C57BL/6

craniofacial

craniofacial phenotype ( J:347602 )

N • fused palatal shelves in E15.5 embryos