Phenotypes associated with this allele

• Allele Symbol: Specc1l^em4Kumc
• Allele Name: endonuclease-mediated mutation 4, University of Kansas Medical Center
• Allele ID: MGI:7286340
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Specc1l^em4Kumc/Specc1l^em4Kumc	involves: C57BL/6J * FVB/NJ	MGI:7286353
ht2	Specc1l^em4Kumc/Specc1l^+	involves: C57BL/6J * FVB/NJ	MGI:7286374

Genotype
MGI:7286353

hm1

• Allelic Composition: Specc1l^em4Kumc/Specc1l^em4Kumc
• 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

Genotype
MGI:7286374

ht2

• Allelic Composition: Specc1l^em4Kumc/Specc1l⁺
• Genetic Background: involves: C57BL/6J * FVB/NJ

mortality/aging

preweaning lethality, incomplete penetrance ( J:324294 )

♀ • Background Sensitivity: rarely see females at weaning when backcrossed to C57BL/6 for approximately 6 generations

craniofacial

cleft palate ( J:324294 )

♀ • low level of penetrance

digestive/alimentary system

cleft palate ( J:324294 )

♀ • low level of penetrance

growth/size/body

cleft palate ( J:324294 )

♀ • low level of penetrance

omphalocele ( J:324294 )

• low level of penetrance

vision/eye

coloboma ( J:324294 )

• low level of penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleft palate		DOID:674		J:324294