Phenotypes Associated with This Genotype

Genotype
MGI:2183555

• Allelic Composition: Cyp26a1^tm1.1Hmd/Cyp26a1^tm1.1Hmd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Cr

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

mortality/aging

perinatal lethality, complete penetrance ( J:67375 )

• animals surviving to birth die within 1 day

prenatal lethality, incomplete penetrance ( J:67375 )

• fewer than normal numbers survive until birth; abnormalities apparent at E9.5

cardiovascular system

abnormal heart morphology ( J:67375 )

• variable penetrance

digestive/alimentary system

abnormal digestive system development ( J:67375 )

• abnormal digestive system development; terminated at the appendix

embryo

incomplete embryo turning ( J:67375 )

• incomplete axial turning; variable penetrance

sirenomelia ( J:67375 )

• caudal part of body truncated with anterior portion relatively normal

abnormal neural tube morphology ( J:67375 )

• irregular folding of neural tube

open neural tube ( J:119939 )

• failure of neural tube closure from the forebrain to the hindbrain in 20% of mice

abnormal somite development ( J:67375 )

• irregular somites; variable penetrance

limbs/digits/tail

abnormal hindlimb morphology ( J:67375 )

• fused at midline; variable penetrance

sirenomelia ( J:67375 )

• caudal part of body truncated with anterior portion relatively normal

absent tail ( J:67375 )

renal/urinary system

fused kidneys ( J:67375 )

• kidneys often fused; horseshoe kidneys

skeleton

vertebral transformation ( J:67375 )

• homeotic transformations of vertebrae

nervous system

nervous system phenotype ( J:119939 )

N • normal in 47% of mice

abnormal nervous system morphology ( J:119939 )

• minor CNS defects in 33% of mice

abnormal neural tube morphology ( J:67375 )

• irregular folding of neural tube

open neural tube ( J:119939 )

• failure of neural tube closure from the forebrain to the hindbrain in 20% of mice

abnormal hindbrain development ( J:67375 )

• abnormal hindbrain patterning

exencephaly ( J:67375 )

• variable penetrance