Phenotypes associated with this allele

• Allele Symbol: Cecr2^{Gt(pGT1)1Hemc}
• Allele Name: gene trap 1, Heather E McDermid
• Allele ID: MGI:3574034
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cecr2^Gt(pGT1)1Hemc/Cecr2^Gt(pGT1)1Hemc	129P2(C)-Cecr2^Gt(pGT1)1Hemc	MGI:3574278
hm2	Cecr2^Gt(pGT1)1Hemc/Cecr2^Gt(pGT1)1Hemc	C.129P2-Cecr2^Gt(pGT1)1Hemc	MGI:3574277
hm3	Cecr2^Gt(pGT1)1Hemc/Cecr2^Gt(pGT1)1Hemc	FVB.129P2(C)-Cecr2^Gt(pGT1)1Hemc	MGI:3574279
hm4	Cecr2^Gt(pGT1)1Hemc/Cecr2^Gt(pGT1)1Hemc	involves: 129P2/OlaHsd * BALB/c	MGI:3574274
hm5	Cecr2^Gt(pGT1)1Hemc/Cecr2^Gt(pGT1)1Hemc	involves: 129P2/OlaHsd * BALB/c * FVB/N	MGI:3574276
hm6	Cecr2^Gt(pGT1)1Hemc/Cecr2^Gt(pGT1)1Hemc	involves: C.129P2-Cecr2^Gt(pGT1)1Hemc * FVB.129P2(C)-Cecr2^Gt(pGT1)1Hemc	MGI:3574280
ht7	Cecr2^Gt(pGT1)1Hemc/Cecr2^+	C.129P2-Cecr2^Gt(pGT1)1Hemc	MGI:5297953
ht8	Cecr2^Gt(pGT1)1Hemc/Cecr2^+	involves: 129P2/OlaHsd * BALB/c	MGI:3574275

Genotype
MGI:3574278

hm1

• Allelic Composition: Cecr2^{Gt(pGT1)1Hemc}/Cecr2^{Gt(pGT1)1Hemc}
• Genetic Background: 129P2(C)-Cecr2^{Gt(pGT1)1Hemc}

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

nervous system

exencephaly ( J:96325 )

• 63% penetrance of exencephaly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
anencephaly		DOID:0060668	OMIM:206500	J:96325

Genotype
MGI:3574277

hm2

• Allelic Composition: Cecr2^{Gt(pGT1)1Hemc}/Cecr2^{Gt(pGT1)1Hemc}
• Genetic Background: C.129P2-Cecr2^{Gt(pGT1)1Hemc}

nervous system

abnormal neural tube morphology ( J:177709 )

• increased cranial neural tube width

exencephaly ( J:96325 , J:177709 )

• 74% penetrance of exencephaly (J:96325)

• penetrance is 74% at N6 and 69% at greater than N10 (J:177709)

embryo

abnormal neural tube morphology ( J:177709 )

• increased cranial neural tube width

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
anencephaly		DOID:0060668	OMIM:206500	J:96325

Genotype
MGI:3574279

hm3

• Allelic Composition: Cecr2^{Gt(pGT1)1Hemc}/Cecr2^{Gt(pGT1)1Hemc}
• Genetic Background: FVB.129P2(C)-Cecr2^{Gt(pGT1)1Hemc}

nervous system

nervous system phenotype ( J:96325 )

N • exencephaly penetrance was 0% unlike in other genetic backgrounds

abnormal neural tube morphology ( J:177709 )

• increased cranial neural tube width

delayed neural tube closure ( J:177709 )

• at the 16 somite stage the neural tube is closed in only about half the embryos

exencephaly ( J:177709 )

• penetrance is 1.6% at greater than N10

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:177709 )

N • no cochlear defects are detected

embryo

abnormal neural tube morphology ( J:177709 )

• increased cranial neural tube width

delayed neural tube closure ( J:177709 )

• at the 16 somite stage the neural tube is closed in only about half the embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	anencephaly	DOID:0060668	OMIM:206500	J:96325

Genotype
MGI:3574274

hm4

• Allelic Composition: Cecr2^{Gt(pGT1)1Hemc}/Cecr2^{Gt(pGT1)1Hemc}
• Genetic Background: involves: 129P2/OlaHsd * BALB/c

mortality/aging

perinatal lethality, incomplete penetrance ( J:96325 )

• most homozygous mutants die perinatally, however 7.5% of homozgygotes are found at weaning and these are indistinguishable from wildtype

vision/eye

absent eyelids ( J:96325 )

• some homozygous mutants lacked eyelids

nervous system

exencephaly ( J:96325 )

• neural tube defect exencephaly was observed at a frequency of 67% in homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
anencephaly		DOID:0060668	OMIM:206500	J:96325

Genotype
MGI:3574276

hm5

• Allelic Composition: Cecr2^{Gt(pGT1)1Hemc}/Cecr2^{Gt(pGT1)1Hemc}
• Genetic Background: involves: 129P2/OlaHsd * BALB/c * FVB/N

nervous system

exencephaly ( J:96325 )

• 36% penetrance of exencephaly

Genotype
MGI:3574280

hm6

• Allelic Composition: Cecr2^{Gt(pGT1)1Hemc}/Cecr2^{Gt(pGT1)1Hemc}
• Genetic Background: involves: C.129P2-Cecr2^{Gt(pGT1)1Hemc} * FVB.129P2(C)-Cecr2^{Gt(pGT1)1Hemc}

nervous system

exencephaly ( J:96325 )

• exencephaly appeared only in one in 35 homozygous mutant embryos

Genotype
MGI:5297953

ht7

• Allelic Composition: Cecr2^{Gt(pGT1)1Hemc}/Cecr2⁺
• Genetic Background: C.129P2-Cecr2^{Gt(pGT1)1Hemc}

nervous system

delayed neural tube closure ( J:177709 )

• at the 14 and 16 somite pair stage the percentage of mice with a closed neural tube is decreased compared to wild-type controls

embryo

delayed neural tube closure ( J:177709 )

• at the 14 and 16 somite pair stage the percentage of mice with a closed neural tube is decreased compared to wild-type controls

Genotype
MGI:3574275

ht8

• Allelic Composition: Cecr2^{Gt(pGT1)1Hemc}/Cecr2⁺
• Genetic Background: involves: 129P2/OlaHsd * BALB/c

nervous system

exencephaly ( J:96325 )

• observed exencephaly at a low frequency of 3.5% in heterozygotes