Phenotypes Associated with This Genotype

Genotype
MGI:5661815

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

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

embryo

abnormal developmental patterning ( J:216413 )

• skewed body axis in some mutants

craniorachischisis ( J:216413 )

• 81% of mutants exhibit craniorachischisis, most often isolated (in 50% of mutants) but sometimes associated with abdominal wall defect (in 31% of mutants) and a skewed body axis

growth/size/body

abnormal abdominal wall morphology ( J:216413 )

• 3% of mutants exhibit only an abdominal wall defect while 31% exhibit both abdominal wall defect and craniorachischisis

limbs/digits/tail

curly tail ( J:216413 )

• 6% of mutants exhibit a looped tail

mortality/aging

prenatal lethality, incomplete penetrance ( J:216413 )

• 13% of mutants are viable postnatally

nervous system

craniorachischisis ( J:216413 )

• 81% of mutants exhibit craniorachischisis, most often isolated (in 50% of mutants) but sometimes associated with abdominal wall defect (in 31% of mutants) and a skewed body axis

exencephaly ( J:216413 )

• 3% of mutants exhibit exencephaly

vision/eye

abnormal eyelid morphology ( J:216413 )

• all mutants exhibit failure of eyelid closure at E16.5; all these have craniorachischisis

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