Phenotypes Associated with This Genotype

Genotype
MGI:3836404

• Allelic Composition: C2cd3^hty/C2cd3^hty
• Genetic Background: involves: C3H/He * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:142506 )

• disrupt embryonic development and caused embryonic lethality between E11 and E13

nervous system

abnormal floor plate morphology ( J:142506 )

• the basal plates of the midbrain are flat in homozygous mutants with exencephaly

• normal cells expressing Foxa2 in the floor plate are missing in spinal cord

abnormal cranial flexure morphology ( J:142506 )

• tight mesencephalic flexure in mutant embryos that undergo neural tube closure

exencephaly ( J:142506 )

• some homozygous mutants exhibit exencephaly in the midbrain and posterior forebrain

embryo

absent embryonic cilia ( J:142506 )

• primary cilia failed to form in most cells in the ventral embryonic node

• primary cilia formation in MEF derived from mutant embryo was greatly compromised

abnormal dorsal-ventral axis patterning ( J:142506 )

• dorsal-ventral patterning of the CNS is disrupted

• loss of ventral cell types in the spinal cord and a ventral expansion of more lateral cell types

• less severe loss of ventral cell types than homozygous C2cd3^{Gt(AG0177)Wtsi}

abnormal left-right axis patterning ( J:142506 )

• loss of left-right asymmetry

abnormal rostral-caudal body axis extension ( J:142506 )

• twisted body axis

abnormal floor plate morphology ( J:142506 )

• the basal plates of the midbrain are flat in homozygous mutants with exencephaly

• normal cells expressing Foxa2 in the floor plate are missing in spinal cord

cardiovascular system

abnormal direction of heart looping ( J:142506 )

• the heart loop turns to opposite direction of the wild type

pericardial edema ( J:142506 )

homeostasis/metabolism

pericardial edema ( J:142506 )

limbs/digits/tail

polydactyly ( J:142506 )

• exhibit severe polydactyly in all four limbs at E12.5

cellular

absent embryonic cilia ( J:142506 )

• primary cilia failed to form in most cells in the ventral embryonic node

• primary cilia formation in MEF derived from mutant embryo was greatly compromised