Phenotypes associated with this allele

• Allele Symbol: Cdk2ap1^tm1Dtw
• Allele Name: targeted mutation 1, David T Wong
• Allele ID: MGI:3512185
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cdk2ap1^tm1Dtw/Cdk2ap1^tm1Dtw	involves: 129S4/SvJae	MGI:3837562
ht2	Cdk2ap1^tm1Dtw/Cdk2ap1^+	involves: 129S4/SvJae	MGI:3837563

Genotype
MGI:3837562

hm1

• Allelic Composition: Cdk2ap1^tm1Dtw/Cdk2ap1^tm1Dtw
• Genetic Background: involves: 129S4/SvJae

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

Craniofacial abnormality of surviving Cdk2ap1^tm1Dtw/Cdk2ap1^tm1Dtw and Cdk2ap1^tm1Dtw/Cdk2ap1⁺ mice

mortality/aging

embryonic lethality between implantation and somite formation, incomplete penetrance ( J:146277 )

• nearly all mice die between E3.5 and E5.5

• however, over-expression of the wild-type gene partially rescues embryonic lethality

craniofacial

round forehead ( J:146277 )

• the only two mice that are born exhibit round foreheads compared to wild-type mice

short snout ( J:146277 )

• the only two mice that are born exhibit short snouts compared to wild-type mice with a snout length to face width ratio that is 47% of wild type

• however, over-expression of the wild-type gene partially rescues snout length to face width ratio

cellular

abnormal cell physiology ( J:146277 )

• mouse embryonic fibroblasts exhibit compromised in vivo pluripotency compared to wild-type cells

embryo

embryo phenotype ( J:146277 )

N • despite lethality after E3.5, hatching is normal

growth/size/body

round forehead ( J:146277 )

• the only two mice that are born exhibit round foreheads compared to wild-type mice

short snout ( J:146277 )

• the only two mice that are born exhibit short snouts compared to wild-type mice with a snout length to face width ratio that is 47% of wild type

• however, over-expression of the wild-type gene partially rescues snout length to face width ratio

Genotype
MGI:3837563

ht2

• Allelic Composition: Cdk2ap1^tm1Dtw/Cdk2ap1⁺
• Genetic Background: involves: 129S4/SvJae

Craniofacial abnormality of surviving Cdk2ap1^tm1Dtw/Cdk2ap1^tm1Dtw and Cdk2ap1^tm1Dtw/Cdk2ap1⁺ mice

craniofacial

short snout ( J:146277 )

• mice exhibit a snout length to face width ratio that is 65% of wild type

• however, over-expression of the wild-type gene partially rescues snout length to face width ratio

growth/size/body

short snout ( J:146277 )

• mice exhibit a snout length to face width ratio that is 65% of wild type

• however, over-expression of the wild-type gene partially rescues snout length to face width ratio