Phenotypes associated with this allele

• Allele Symbol: Deaf1^tm1Sho
• Allele Name: targeted mutation 1, Stuart Orkin
• Allele ID: MGI:3035918
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Deaf1^tm1Sho/Deaf1^tm1Sho	either: (involves: 129/Sv * CD-1) or (involves: 129/Sv * C57BL/6)	MGI:3035944
ht2	Deaf1^tm1Sho/Deaf1^+	either: (involves: 129/Sv * CD-1) or (involves: 129/Sv * C57BL/6)	MGI:3035945

Genotype
MGI:3035944

hm1

• Allelic Composition: Deaf1^tm1Sho/Deaf1^tm1Sho
• Genetic Background: either: (involves: 129/Sv * CD-1) or (involves: 129/Sv * C57BL/6)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:88168 )

• mice exhibiting exencephaly all died within the first day

• remaining mice were all healthy and fertile

skeleton

abnormal sternocostal joint morphology ( J:88168 )

• 8th rib frequently attaches to sternum

rib bifurcation ( J:88168 )

• bifurcation and/or fusion of ribs

rib fusion ( J:88168 )

• occasional fusion of first and second ribs

cervical vertebral fusion ( J:88168 )

• abnormalities seen in cervical vertebrae including fusion of C2 and C3

nervous system

abnormal neural tube morphology ( J:88168 )

open neural tube ( J:88168 )

• defects in neural tube closure seen in about 80% of E18.5 embryos

exencephaly ( J:88168 )

• in some but not all mice

embryo

abnormal neural tube morphology ( J:88168 )

open neural tube ( J:88168 )

• defects in neural tube closure seen in about 80% of E18.5 embryos

Genotype
MGI:3035945

ht2

• Allelic Composition: Deaf1^tm1Sho/Deaf1⁺
• Genetic Background: either: (involves: 129/Sv * CD-1) or (involves: 129/Sv * C57BL/6)

skeleton

rib fusion ( J:88168 )

• occasional fusion of first and second ribs

nervous system

exencephaly ( J:88168 )

• in about 30% of examples