Phenotypes Associated with This Genotype

Genotype
MGI:3042793

• Allelic Composition: Shh^tm1Chg/Shh^tm1Chg
• Genetic Background: involves: C57BL/6

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

embryo

abnormal dorsal-ventral axis patterning ( J:89364 )

• many markers of dorsal and lateral cell fates are expressed across the ventral midline

embryonic growth retardation ( J:89364 )

• by E11.5 homozygotes display severe growth retardation

abnormal neural tube morphology ( J:89364 )

• at E11.5 ventral cell types are missing in the neural tube in homozygous mutants

absent notochord ( J:89364 )

abnormal somite shape ( J:89364 )

• by E11.5 - E12.5 the somites in homozygotes are abnormally shaped

decreased somite size ( J:89364 )

• by E11.5 - E12.5 the somites in homozygotes are smaller compared to wild-type embryos

growth/size/body

embryonic growth retardation ( J:89364 )

• by E11.5 homozygotes display severe growth retardation

limbs/digits/tail

abnormal limb morphology ( J:89364 )

• by E11.5 - E12.5 the limbs fail to grow out along the proximodistal axis

vision/eye

cyclopia ( J:89364 )

• at E11.5 homozygotes have a single ventrally positioned eye

nervous system

abnormal neural tube morphology ( J:89364 )

• at E11.5 ventral cell types are missing in the neural tube in homozygous mutants

holoprosencephaly ( J:89364 )

• at E11.5 homozygotes display severe holoprosencephaly

abnormal motor neuron morphology ( J:89364 )

• motor neurons and their progenitors are absent in homozygous mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly 3		DOID:0110875	OMIM:142945	J:89364