Phenotypes Associated with This Genotype

Genotype
MGI:3711884

• Allelic Composition: Gas1^tm2Fan/Gas1^tm2Fan; Shh^tm1Chg/Shh⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

limbs/digits/tail

forelimb oligodactyly ( J:121553 )

• digit 2 or 3 is absent from the forelimbs

• however, long bones are normal

craniofacial

abnormal craniofacial morphology ( J:121553 )

• cranio-skeletal defects are more significant than those seen in Gas1^tm2Fan homozygotes

short mandible ( J:121553 )

• profound truncation

abnormal nose morphology ( J:121553 )

• at E18.5, complete fusion of medial nasal processes

nervous system

abnormal floor plate morphology ( J:121553 )

• floor plate cells adopt more dorsal fates, as shown by marker staining, than Gas1^tm2Fan homozygotes

abnormal innervation ( J:121553 )

• axonal projections are misrouted through the Isl1/2+ motor column

decreased neuronal precursor cell number ( J:121553 )

• vp3 interneuron progenitors are reduced further compared to Gas1^tm2Fan homozygotes

• pMN motorneuron progenitors are dramatically reduced although their relative dorsal position to vp3 interneuron progenitors is preserved

• however, pMN specification occurs normally

skeleton

short mandible ( J:121553 )

• profound truncation

abnormal intervertebral disk morphology ( J:121553 )

• partial fusion of intervertebral discs

abnormal vertebral body morphology ( J:121553 )

• reduction in the ossification centers

respiratory system

abnormal nose morphology ( J:121553 )

• at E18.5, complete fusion of medial nasal processes

growth/size/body

short mandible ( J:121553 )

• profound truncation

abnormal nose morphology ( J:121553 )

• at E18.5, complete fusion of medial nasal processes

decreased fetal size ( J:121553 )

embryo

abnormal floor plate morphology ( J:121553 )

• floor plate cells adopt more dorsal fates, as shown by marker staining, than Gas1^tm2Fan homozygotes