Phenotypes associated with this allele

• Allele Symbol: Tgif1^tm1Ychn
• Allele Name: targeted mutation 1, Yan Chen
• Allele ID: MGI:3698004
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tgif1^tm1Ychn/Tgif1^tm1Ychn	involves: 129X1/SvJ * C57BL/6	MGI:3699261
ht2	Tgif1^tm1Ychn/Tgif1^+	involves: 129X1/SvJ * C57BL/6	MGI:3699262

Genotype
MGI:3699261

hm1

• Allelic Composition: Tgif1^tm1Ychn/Tgif1^tm1Ychn
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:117761 )

• with increasing C57BL/6 genetic background (more backcrosses to C57BL/6 mice), lethality increases; in N4F4 matings, only 13 heterozygous vs 25 wild-type embryos are recovered instead of 50 expected

nervous system

abnormal brain development ( J:117761 )

• 22/149 N2F2 heterozygotes had a hypoplastic head phenotype

• with increasing C57BL/6 genetic background (more backcrosses to C57BL/6 mice), penetrance of brain defects increases

exencephaly ( J:117761 )

• 3/149 heterozygotes in the N2F2 generation displayed exencephaly

Genotype
MGI:3699262

ht2

• Allelic Composition: Tgif1^tm1Ychn/Tgif1⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:117761 )

• homozygosity results in some lethality; between E10.5-12.5, ratio of homozygous:heterozygous embryos is ~0.6:1 instead of 1:1 expected in N2F2 generation

prenatal lethality, incomplete penetrance ( J:117761 )

• with increasing C57BL/6 genetic background (more backcrosses to C57BL/6 mice), lethality increases; in N4F4 matings, only 6 homozygotes vs 25 wild-type embryos are recovered

nervous system

abnormal brain development ( J:117761 )

• 10/67 N2F2 homozygotes displayed a hypoplastic head phenotype

• with increasing C57BL/6 genetic background (more backcrosses to C57BL/6 mice), penetrance of brain defects increases

• at E11.5, some embryos exhibit exencephaly and neuroepithelium is exposed outward with abnormal pitting

• at E11.5-12.5, neuroepithelial folding is abnormal and there are local thickenings preventing ventricular expansion in embryos with hypoplastic head phenotype

abnormal forebrain development ( J:117761 )

abnormal folding of telencephalic vesicles ( J:117761 )

• in embryos with hypoplastic head phenotype, separate telecephalic and diencephalic vesicles are not generated and only single vesicle is formed

abnormal hindbrain development ( J:117761 )

• 10/67 N2F2 homozygotes displayed a hypoplastic head phenotype with reduced hindbrain development

holoprosencephaly ( J:117761 )

• observed in limited numbers of embryos

small brain ventricles ( J:117761 )

• brain ventricle size is reduced in homozygotes with hypoplastic head phenotype

exencephaly ( J:117761 )

• 2 null N1F1 embryos showed exencephaly

• 14/67 N2F2 homozygotes had exencephaly

craniofacial

abnormal midface morphology ( J:117761 )

• homozygous embryos show midface malformations

abnormal upper lip morphology ( J:117761 )

• long upper lip

philtrum hypoplasia ( J:117761 )

• deficient philtrum

abnormal snout morphology ( J:117761 )

• features include protruded nose and long upper lip with deficient philtrum

growth/size/body

abnormal midface morphology ( J:117761 )

• homozygous embryos show midface malformations

abnormal upper lip morphology ( J:117761 )

• long upper lip

philtrum hypoplasia ( J:117761 )

• deficient philtrum

abnormal snout morphology ( J:117761 )

• features include protruded nose and long upper lip with deficient philtrum

microcephaly ( J:117761 )

• observed in a limited number of embryos