Phenotypes Associated with This Genotype

Genotype
MGI:3846795

• Allelic Composition: Smurf1^tm1Wran/Smurf1⁺; Smurf2^tm1Wran/Smurf2^tm1Wran
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:148693 )

• fewer than expected mice are present 24 hours after birth (10% compared to the expected 25%)

nervous system

abnormal neural tube morphology ( J:148693 )

• at E14.5, 25% of mice exhibit neural tube defects including exencephaly and spina bifida unlike wild-type mice

abnormal neural tube closure ( J:148693 )

• at 5 and 6 somite stages, mice exhibit delay in bending at the median hinge points compared to in wild-type mice

spina bifida ( J:148693 )

• at E14.5, 25% of mice exhibit neural tube defects including exencephaly and spina bifida unlike wild-type mice

abnormal orientation of cochlear hair cell stereociliary bundles ( J:148693 )

abnormal orientation of outer hair cell stereociliary bundles ( J:148693 )

• misorientation of cells is most pronounced in the outer hair cell layers with mispositioning of cells also observed

• misoriented outer hair cell are evident in apical and basal surfaces

• outer hair cells display abnormal cell shape and cell-cell contacts resulting in the appearance of pentagonal or heptagonal shaped cells instead of the hexagonal pattern observed in wild-type mice

exencephaly ( J:148693 )

• at E14.5, 25% of mice exhibit neural tube defects including exencephaly and spina bifida unlike wild-type mice

embryo

abnormal rostral-caudal body axis extension ( J:148693 )

• mice exhibit a delay in anterior posterior axis elongation compared with in wild-type mice

abnormal neural tube morphology ( J:148693 )

• at E14.5, 25% of mice exhibit neural tube defects including exencephaly and spina bifida unlike wild-type mice

abnormal neural tube closure ( J:148693 )

• at 5 and 6 somite stages, mice exhibit delay in bending at the median hinge points compared to in wild-type mice

spina bifida ( J:148693 )

• at E14.5, 25% of mice exhibit neural tube defects including exencephaly and spina bifida unlike wild-type mice

abnormal notochord morphology ( J:148693 )

• at 5 and 6 somite stages, the posterior notochord is laterally expanded and reduced length to width ratios compared to in wild-type mice

limbs/digits/tail

curly tail ( J:148693 )

• occasionally looped

hearing/vestibular/ear

abnormal orientation of cochlear hair cell stereociliary bundles ( J:148693 )

abnormal orientation of outer hair cell stereociliary bundles ( J:148693 )

• misorientation of cells is most pronounced in the outer hair cell layers with mispositioning of cells also observed

• misoriented outer hair cell are evident in apical and basal surfaces

• outer hair cells display abnormal cell shape and cell-cell contacts resulting in the appearance of pentagonal or heptagonal shaped cells instead of the hexagonal pattern observed in wild-type mice