Phenotypes associated with this allele

• Allele Symbol: Smurf1^tm1Wran
• Allele Name: targeted mutation 1, Jeffrey Wrana
• Allele ID: MGI:3846785
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smurf1^tm1Wran/Smurf1^tm1Wran	involves: 129S1/Sv * 129X1/SvJ * ICR	MGI:3846791
cx2	Smurf1^tm1Wran/Smurf1^tm1Wran Smurf2^tm1Wran/Smurf2^tm1Wran	involves: 129S1/Sv * 129X1/SvJ * ICR	MGI:3846793
cx3	Smurf1^tm1Wran/Smurf1^tm1Wran Smurf2^tm1Wran/Smurf2^+	involves: 129S1/Sv * 129X1/SvJ * ICR	MGI:3846794
cx4	Smurf1^tm1Wran/Smurf1^+ Smurf2^tm1Wran/Smurf2^tm1Wran	involves: 129S1/Sv * 129X1/SvJ * ICR	MGI:3846795

Genotype
MGI:3846791

hm1

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

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

normal phenotype

no abnormal phenotype detected ( J:148693 )

• mice are viable unlike other Smurf1 knock-out mice

Genotype
MGI:3846793

cx2

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:148693 )

• most mice die around E10.5 and all mice are dead by E12.5

nervous system

abnormal embryonic neuroepithelium morphology ( J:148693 )

• at E8.75, mice exhibit neuroectoderm that is splayed open with ectopic invaginations and an expanded floor plate unlike in wild-type mice

• however, dorso-lateral hinge points form

enlarged floor plate ( J:148693 )

• expanded at E8.75

open neural tube ( J:148693 )

• 65% of mice display open neural tubes at 6 somite stage unlike wild-type mice

embryo

abnormal gastrulation ( J:148693 )

• 35% of mice display gastrulation defects characterized by abnormal posterior structures

abnormal gastrulation movements ( J:148693 )

• the anterior posterior axis is shortened and increased in width compared to in wild-type mice indicative of defective convergent extension movements

abnormal embryonic neuroepithelium morphology ( J:148693 )

• at E8.75, mice exhibit neuroectoderm that is splayed open with ectopic invaginations and an expanded floor plate unlike in wild-type mice

• however, dorso-lateral hinge points form

enlarged floor plate ( J:148693 )

• expanded at E8.75

open neural tube ( J:148693 )

• 65% of mice display open neural tubes at 6 somite stage unlike wild-type mice

Genotype
MGI:3846794

cx3

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

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

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

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 )

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

Genotype
MGI:3846795

cx4

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

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