Phenotypes Associated with This Genotype

Genotype
MGI:7286352

• Allelic Composition: Specc1l^em3Kumc/Specc1l^em3Kumc
• Genetic Background: involves: C57BL/6J * FVB/NJ

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

craniofacial

abnormal oral cavity morphology ( J:324294 )

• mice with execephaly have narrower oral cavities

abnormal palatal rugae morphology ( J:324294 )

• subtle defects in formation

cleft palate ( J:324294 )

• most embryos without exencephaly display permanent cleft palate

• embryos display either exencephaly or cleft palate, but not both

• more prevalent in males than females

vision/eye

coloboma ( J:324294 )

• at E15.5

embryo

abnormal neural tube closure ( J:324294 )

• partial penetrance of an anterior neural tube closure defect

digestive/alimentary system

abnormal palatal rugae morphology ( J:324294 )

• subtle defects in formation

cleft palate ( J:324294 )

• most embryos without exencephaly display permanent cleft palate

• embryos display either exencephaly or cleft palate, but not both

• more prevalent in males than females

nervous system

abnormal neural tube closure ( J:324294 )

• partial penetrance of an anterior neural tube closure defect

exencephaly ( J:324294 )

• embryos display either exencephaly or cleft palate, but not both

• more prevalent in females than males

growth/size/body

abnormal oral cavity morphology ( J:324294 )

• mice with execephaly have narrower oral cavities

abnormal palatal rugae morphology ( J:324294 )

• subtle defects in formation

cleft palate ( J:324294 )

• most embryos without exencephaly display permanent cleft palate

• embryos display either exencephaly or cleft palate, but not both

• more prevalent in males than females

omphalocele ( J:324294 )

• partial penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Teebi hypertelorism syndrome 1		DOID:0080698	OMIM:145420	J:324294