Phenotypes associated with this allele

• Allele Symbol: Asph^tm1Jed
• Allele Name: targeted mutation 1, Joe E Dinchuk
• Allele ID: MGI:2179287
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Asph^tm1Jed/Asph^tm1Jed	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3834197
hm2	Asph^tm1Jed/Asph^tm1Jed	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J	MGI:2653697
cx3	Apc^Min/Apc^Min Asph^tm1Jed/Asph^tm1Jed	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * C57BL/6NTac	MGI:2653701

Genotype
MGI:3834197

hm1

• Allelic Composition: Asph^tm1Jed/Asph^tm1Jed
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd

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

Asph^tm1Jed/Asph^tm1Jed mice exhibit a shortened snout, palatal ridge defect and fusion of the digits

reproductive system

reduced female fertility ( J:75888 )

♀

decreased litter size ( J:75888 )

• 40% reduction in size

craniofacial

cleft palate ( J:75888 )

• mild but with 100% penetrance

short snout ( J:75888 )

• 90% penetrance

limbs/digits/tail

syndactyly ( J:75888 )

• varying degrees of soft tissue fusions on all four paws; 99% penetrance

digestive/alimentary system

cleft palate ( J:75888 )

• mild but with 100% penetrance

growth/size/body

cleft palate ( J:75888 )

• mild but with 100% penetrance

short snout ( J:75888 )

• 90% penetrance

Genotype
MGI:2653697

hm2

• Allelic Composition: Asph^tm1Jed/Asph^tm1Jed
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J

Asph^tm1Jed/Asph^tm1Jed mice exhibit a shortened snout, palatal ridge defect and fusion of the digits

craniofacial

cleft palate ( J:75888 )

• mild but with 100% penetrance

short snout ( J:75888 )

• 90% penetrance

limbs/digits/tail

syndactyly ( J:75888 )

• digital fusions in one or more paws; 99% penetrance

digestive/alimentary system

cleft palate ( J:75888 )

• mild but with 100% penetrance

growth/size/body

cleft palate ( J:75888 )

• mild but with 100% penetrance

short snout ( J:75888 )

• 90% penetrance

Genotype
MGI:2653701

cx3

• Allelic Composition: Apc^Min/Apc^Min; Asph^tm1Jed/Asph^tm1Jed
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * C57BL/6NTac

mortality/aging

premature death ( J:75888 )

• double mutants become morbidly ill and were sacrificed at an average age of 89 days unlike single homozyous Apc^Min mice that all survive to 110 days of age (the experimental end point)

neoplasm

increased gastrointestinal tumor incidence ( J:75888 )

• approximately 2-fold increase in small intestinal tumor number and increase in tumor size compared to single homozygous Apc^Min mice

digestive/alimentary system

increased gastrointestinal tumor incidence ( J:75888 )

• approximately 2-fold increase in small intestinal tumor number and increase in tumor size compared to single homozygous Apc^Min mice