Phenotypes Associated with This Genotype

Genotype
MGI:5661740

• Allelic Composition: Celsr1^Crsh/Celsr1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: C3H.Cg-Vangl2^Lp Celsr1^Crsh

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

embryo

abnormal left-right axis patterning ( J:216413 )

• rightward skewing of the embryo, with shortening of the right-hand size compared with the left, suggesting a defect in embryo turning

craniorachischisis ( J:216413 )

• 100% of embryos exhibit craniorachischisis, occurring usually as an isolated defect (in 89% of mutants) but sometimes associated with an abdominal wall defect (in 11% of mutants)

growth/size/body

omphalocele ( J:216413 )

• abdominal wall defect in 11% of mutants, which is likely to be omphalocele/exomphalos

nervous system

craniorachischisis ( J:216413 )

• 100% of embryos exhibit craniorachischisis, occurring usually as an isolated defect (in 89% of mutants) but sometimes associated with an abdominal wall defect (in 11% of mutants)

vision/eye

abnormal eyelid morphology ( J:216413 )

• 3 of 5 mutants fail to close eyelids at E16.5, while others show partial eyelid closure

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neural tube defect		DOID:0080074	OMIM:301410 OMIM:601634	J:216413