Phenotypes Associated with This Genotype

Genotype
MGI:7595529

• Allelic Composition: Ahdc1^em#Oro/?
• Genetic Background: mosaic involves: C57BL/6 * CD-1

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

mortality/aging

perinatal lethality, complete penetrance ( J:326009 )

• mice fail to survive past birth

vision/eye

eyelids open at birth ( J:326009 )

• less severely affected mice exhibit eyes open at birth

anophthalmia ( J:326009 )

• the most severely affected E18 mutants have missing eyes

craniofacial

abnormal craniofacial morphology ( J:326009 )

• less severely affected mice have craniofacial abnormalities such as short snouts or craniosynostosis

short snout ( J:326009 )

• seen in less severely affected mice

skeleton

premature cranial suture closure ( J:326009 )

• seen in less severely affected mice

integument

abnormal skin morphology ( J:326009 )

• more severely affected E18 mutants show skin stratification defects including loss of basal and suprabasal markers

• differentiated skin layers are substantially reduced in more severely affected mutants

dermal-epidermal separation ( J:326009 )

• the epidermis appears incompletely attached to the underlying dermis is more severely affected mutants

skin detachment ( J:326009 )

• the most severely affected E18 mutants show friable poorly formed skin easily sloughing from the body

growth/size/body

short snout ( J:326009 )

• seen in less severely affected mice

omphalocele ( J:326009 )

• the most severely affected E18 mutants have open ventral walls

decreased fetal size ( J:326009 )

• the most severely affected E18 mutants are undersized

cardiovascular system

abnormal vascular development ( J:326009 )

• the most severely affected E18 mutants hypovascularized

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Xia-Gibbs Syndrome		DOID:0070055	OMIM:615829	J:326009