Phenotypes Associated with This Genotype

Genotype
MGI:3604378

• Allelic Composition: Lrp6^Gt(Ex187)Byg/Lrp6^Gt(Ex187)Byg
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:64989 )

• homozygotes die at birth

embryo

sirenomelia ( J:64989 )

absent apical ectodermal ridge ( J:64989 )

• homozygotes fail to maintain the apical ectodermal ridge

absent paraxial mesoderm ( J:64989 )

• loss of paraxial mesoderm is seen at E9.5

spina bifida ( J:64989 )

• about half of homozygotes display spina bifida and/or exencephaly

incomplete somite formation ( J:64989 )

• caudal somites are absent at E10.5

abnormal tail bud morphology ( J:64989 )

• at E9.5, sections through the tail bud reveal excess neural tissue and loss of paraxial mesoderm

small tail bud ( J:64989 )

• at E8.5, the tail bud is reduced in size

nervous system

spina bifida ( J:64989 )

• about half of homozygotes display spina bifida and/or exencephaly

abnormal midbrain-hindbrain boundary morphology ( J:64989 )

• at E10.5 the midbrain hindbrain boundary is less distinct

abnormal midbrain morphology ( J:64989 )

• at E14.5 the caudal midbrain is absent

absent inferior colliculus ( J:64989 )

• at birth the inferior colliculus is absent

abnormal cerebellum morphology ( J:64989 )

• at birth the cerebellum is disorganized

exencephaly ( J:64989 )

• about half of homozygotes display spina bifida and/or exencephaly

skeleton

absent vertebrae ( J:64989 )

• vertebrae caudal to the lumbar region are absent

limbs/digits/tail

sirenomelia ( J:64989 )

absent apical ectodermal ridge ( J:64989 )

• homozygotes fail to maintain the apical ectodermal ridge

abnormal tail bud morphology ( J:64989 )

• at E9.5, sections through the tail bud reveal excess neural tissue and loss of paraxial mesoderm

small tail bud ( J:64989 )

• at E8.5, the tail bud is reduced in size

abnormal digit morphology ( J:64989 )

• some of the remaining forelimb digits have ectopic tendons

forelimb oligodactyly ( J:64989 )

• one or more posterior digits are missing on the forelimb and variable loss of anterior digits is seen