Phenotypes associated with this allele

• Allele Symbol: Terf1^tm1Tdl
• Allele Name: targeted mutation 1, Titia de Lange
• Allele ID: MGI:2677837
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Terf1^tm1Tdl/Terf1^tm1Tdl	involves: 129S2/SvPas	MGI:2677842
ht2	Terf1^tm1Tdl/Terf1^+	involves: 129S2/SvPas	MGI:2677840
cx3	Terf1^tm1Tdl/Terf1^tm1Tdl Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas	MGI:2677843
cx4	Terc^tm1Rdp/Terc^tm1Rdp Terf1^tm1Tdl/Terf1^tm1Tdl	involves: 129S2/SvPas	MGI:2677844

Genotype
MGI:2677842

hm1

• Allelic Composition: Terf1^tm1Tdl/Terf1^tm1Tdl
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:85440 )

• no homozygotes born

• homozygotes die before E7.5

• 2 live homozygotes out of 10 found at E6.5

• E5-E5.5 litters with normal appearing homozygotes

embryo

abnormal inner cell mass apoptosis ( J:85440 )

• apoptosis occurring (around 62% of cells)

• no degradation of telomeric DNA or telomere fusions

absent inner cell mass proliferation ( J:85440 )

• ICM fail to grow after second day in culture from E3.5 embryos

abnormal extraembryonic tissue morphology ( J:85440 )

• extraembryonic structures generally aberrant

abnormal ectoplacental cone morphology ( J:85440 )

• at E6.5

cellular

abnormal inner cell mass apoptosis ( J:85440 )

• apoptosis occurring (around 62% of cells)

• no degradation of telomeric DNA or telomere fusions

absent inner cell mass proliferation ( J:85440 )

• ICM fail to grow after second day in culture from E3.5 embryos

Genotype
MGI:2677840

ht2

• Allelic Composition: Terf1^tm1Tdl/Terf1⁺
• Genetic Background: involves: 129S2/SvPas

normal phenotype

no abnormal phenotype detected ( J:85440 )

• heterozygotes were slightly under represented in litters

• 58% as opposed to 66% expected

• no obvious phenotype and mice were fertile

• no chromosomal aberations and normal length telomeres both in MEFs and adult splenocytes

Genotype
MGI:2677843

cx3

• Allelic Composition: Terf1^tm1Tdl/Terf1^tm1Tdl; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129S2/SvPas

mortality/aging

prenatal lethality, complete penetrance ( J:85440 )

• no homozygotes were born

• timing of lethality was somewhat attenuated

• undersized surviving embryos found at E7-7.5

• 2 surviving embryos at E8-8.5

embryo

disorganized extraembryonic tissue ( J:85440 )

• extraembryonic structures generally disorganized

Genotype
MGI:2677844

cx4

• Allelic Composition: Terc^tm1Rdp/Terc^tm1Rdp; Terf1^tm1Tdl/Terf1^tm1Tdl
• Genetic Background: involves: 129S2/SvPas

mortality/aging

prenatal lethality, complete penetrance ( J:85440 )

• no homozygotes were born