Phenotypes Associated with This Genotype

Genotype
MGI:3052103

• Allelic Composition: Hhat^tm2Ptch/Hhat^tm2Ptch
• 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

absent floor plate ( J:89228 )

• no morphologically distinct floor plate can be seen at any axial level

growth/size/body

decreased embryo size ( J:89228 )

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

disproportionate dwarf ( J:89228 )

• at birth mutants display severe short-limb dwarfism

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

skeleton

chondrodystrophy ( J:89228 )

• reduced chondrocyte proliferation and severe short-limb dwarfism are seen

nervous system

absent floor plate ( J:89228 )

• no morphologically distinct floor plate can be seen at any axial level

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