Phenotypes associated with this allele

• Allele Symbol: Sall4^tm1Yam
• Allele Name: targeted mutation 1, Shinya Yamanaka
• Allele ID: MGI:4438383
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sall4^tm1Yam/Sall4^tm1Yam	involves: 129S4/SvJae * C57BL/6J	MGI:4438387
ht2	Sall4^tm1Yam/Sall4^+	involves: 129S4/SvJae * C57BL/6J	MGI:4438388

Genotype
MGI:4438387

hm1

• Allelic Composition: Sall4^tm1Yam/Sall4^tm1Yam
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:158264 )

• though present at E3.5, no mice are found at E7.5

embryo

decreased inner cell mass proliferation ( J:158264 )

• proliferation is decreased compared to in wild-type mice

delayed blastocyst hatching from the zona pellucida ( J:158264 )

abnormal primitive endoderm morphology ( J:158264 )

• proliferation of primitive endoderm is reduced compared to in wild-type mice

absent egg cylinders ( J:158264 )

• 8 of 24 mice at E6.5

cellular

abnormal cell physiology ( J:158264 )

• embryo-derived ES cells exhibit reduced teratoma formation compared with wild-type cells

decreased cell proliferation ( J:158264 )

• embryo-derived ES cells exhibit decreased proliferation compared with wild-type cells

decreased inner cell mass proliferation ( J:158264 )

• proliferation is decreased compared to in wild-type mice

Genotype
MGI:4438388

ht2

• Allelic Composition: Sall4^tm1Yam/Sall4⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

mortality/aging

premature death ( J:158264 )

• fewer than expected mice are present at 4 to 5 weeks

• 12 of 129 mice die within months of birth due to anorectal malformation

lethality throughout fetal growth and development, incomplete penetrance ( J:158264 )

• slightly fewer than expected mice are present at E18.5

nervous system

open neural tube ( J:158264 )

• in 16% of mice at E11.5 to E14.5

exencephaly ( J:158264 )

• at 15- to 20-somite stages, 50% of mice exhibit open forebrain/midbrain and hindbrain regions unlike wild-type mice

• at E18.5, 3 of 19 mice exhibit exencephaly unlike wild-type mice

digestive/alimentary system

abnormal anal canal morphology ( J:158264 )

• 12 of 129 mice die within months of birth due to anorectal malformation

abnormal rectum morphology ( J:158264 )

• 12 of 129 mice die within months of birth due to anorectal malformation

embryo

open neural tube ( J:158264 )

• in 16% of mice at E11.5 to E14.5