Phenotypes associated with this allele

• Allele Symbol: Shh^tm1Ptch
• Allele Name: targeted mutation 1, Pao-Tien Chuang
• Allele ID: MGI:3051902
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Shh^tm1Ptch/Shh^tm1Ptch	involves: 129P2/OlaHsd * FVB/N * various	MGI:3052107

Genotype
MGI:3052107

hm1

• Allelic Composition: Shh^tm1Ptch/Shh^tm1Ptch
• Genetic Background: involves: 129P2/OlaHsd * FVB/N * various

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

mortality/aging

neonatal lethality, complete penetrance ( J:89228 )

• homozygotes die shortly after birth

embryo

decreased embryo size ( J:89228 )

• at E10.5 homozygotes are smaller than wild-type littermates

growth/size/body

decreased embryo size ( J:89228 )

• at E10.5 homozygotes are smaller than wild-type littermates

limbs/digits/tail

oligodactyly ( J:89228 )

• only 4 digits form

• unlike Shh null mutants no proximal-distal limb truncation is seen

• fusion between digits 3 and 4 is seen on the forelimbs

nervous system

holoprosencephaly ( J:89228 )

• at E10.5 homozygotes display holoprosencephaly

decreased motor neuron number ( J:89228 )

• most v2 motor neurons are absent

abnormal ventral interneuron 2 morphology ( J:89228 )

• most v2 interneurons are absent

abnormal ventral interneuron 3 morphology ( J:89228 )

• most v3 interneurons are absent