Phenotypes Associated with This Genotype

Genotype
MGI:5661818

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

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

embryo

abnormal developmental patterning ( J:216413 )

• skewed body axis in some mutants

spina bifida ( J:216413 )

• lumbosacral open spina bifida in 2% of mutants (1 of 41); this mouse shows partially closed eyelids

craniorachischisis ( J:216413 )

• 42% of mutants exhibit craniorachischisis, most often isolated (32% of mutants) but sometimes associated with abdominal wall defect and a skewed body axis (10% of mutants)

• however, 46% of mutants appear normal

growth/size/body

abnormal abdominal wall morphology ( J:216413 )

• abdominal wall defect in some mutants

limbs/digits/tail

curly tail ( J:216413 )

• 2% of mutants exhibit a looped tail

nervous system

spina bifida ( J:216413 )

• lumbosacral open spina bifida in 2% of mutants (1 of 41); this mouse shows partially closed eyelids

craniorachischisis ( J:216413 )

• 42% of mutants exhibit craniorachischisis, most often isolated (32% of mutants) but sometimes associated with abdominal wall defect and a skewed body axis (10% of mutants)

• however, 46% of mutants appear normal

exencephaly ( J:216413 )

• isolated exencephaly in 7% of mutants

vision/eye

abnormal eyelid morphology ( J:216413 )

• mutants with craniorachischisis show completely open eyelids at E16.5

abnormal eyelid development ( J:216413 )

• 50% of mutants (5 of 10) exhibit failure of eyelid formation at E16.5

• mutants with craniorachischisis show completely open eyelids

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