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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tbx4tm1.2Pa
targeted mutation 1.2, Virginia Papaioannou
MGI:3811603
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tbx4tm1.2Pa/Tbx4tm1.2Pa involves: 129S1/Sv * 129X1/SvJ * FVB/N MGI:3811611
cn2
Tbx4tm1.1Pa/Tbx4tm1.2Pa
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6J * FVB/N * SJL/J MGI:3811612
cn3
Tbx4tm1.2Pa/Tbx4tm1.2Pa
Gt(ROSA)26Sortm1(cre/ERT)Brn/Gt(ROSA)26Sor+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * FVB/N MGI:3811615
cn4
Tbx4tm1.2Pa/Tbx4tm1.2Pa
Tg(Prrx1-cre/ERT2)1Mlgn/0
involves: 129S1/Sv * 129X1/SvJ MGI:4442421


Genotype
MGI:3811611
hm1
Allelic
Composition
Tbx4tm1.2Pa/Tbx4tm1.2Pa
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx4tm1.2Pa mutation (1 available); any Tbx4 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice exhibit no abnormal phenotype




Genotype
MGI:3811612
cn2
Allelic
Composition
Tbx4tm1.1Pa/Tbx4tm1.2Pa
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6J * FVB/N * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx4tm1.1Pa mutation (1 available); any Tbx4 mutation (23 available)
Tbx4tm1.2Pa mutation (1 available); any Tbx4 mutation (23 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• at E15.5, mice exhibit mild or nonexistent anterior digit fusions
• the second digit of the foot is reduced compared to in wild-type mice
• mice exhibit a partial fusion of the tarsals
• hindlimbs are turned nearly backwards and do not articulate with the pelvis unlike in wild-type mice
• however, despite reduced hindlimb features apoptosis rates in the hindlimb are normal
• at E15.5, mice exhibit severely hypoplastic femurs that fail to ossify
• at E15.5, mice exhibit hypoplastic fibulas that fail to ossify

skeleton
• at E15.5, mice exhibit mild or nonexistent anterior digit fusions
• mice exhibit a partial fusion of the tarsals
• at E15.5, mice exhibit severely hypoplastic femurs that fail to ossify
• at E15.5, mice exhibit hypoplastic fibulas that fail to ossify
• at E15.5, mice exhibit hypoplastic pelvis
• the ischium is fused to the illeum
• neonates exhibit small hips
• the pelvic rami are absent and the ischium is fused to the illeum
• however, apoptosis rates in the hindlimb are normal




Genotype
MGI:3811615
cn3
Allelic
Composition
Tbx4tm1.2Pa/Tbx4tm1.2Pa
Gt(ROSA)26Sortm1(cre/ERT)Brn/Gt(ROSA)26Sor+
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(cre/ERT)Brn mutation (1 available); any Gt(ROSA)26Sor mutation (993 available)
Tbx4tm1.2Pa mutation (1 available); any Tbx4 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• following tamoxifen treatment at E6.5, all mice die at E10.5 due to failure of chorioallantoic fusion
• following tamoxifen treatment at E7.5, 50% of mice die at E10.5 due to failure of chorioallantoic fusion

limbs/digits/tail
N
• despite defects in hindlimb formation following treatment with tamoxifen at E9.5 and E10.5, mice exhibit normal hindlimb identity and forelimb development
• mice treated with tamoxifen at E11.5 exhibit normal hindlimb morphology
• following tamoxifen treatment at E7.5, limb buds form but are degenerating by E11.5 with hindlimb limited outgrowth
• following tamoxifen treatment at E9.5, the autopod of the hindlimb is thin
• following tamoxifen treatment at E9.5, the space between expression domains of Tbx2 and Tbx3 expression are narrower than in wild type mice and the hindlimb autopod contains fewer cells than in wild-type mice
• however, there is no reduction in cell proliferation rates in the hindlimb autopods of tamoxifen treated mice
• following tamoxifen treatment at E9.5 or E10.5, mice exhibit abnormal anterior digits of the hindlimb
• following tamoxifen treatment at E10.5, some mice exhibit thin hindlimb digits I and II
• following tamoxifen treatment at E9.5, 33% of mice exhibit fusion of the anterior hindlimb digit; some with parital fusions of digits I and II and others with 4 digits indicating the loss of digit II or fusion of digits I and II
• following tamoxifen treatment at E10.5, 42% of mice exhibit fusion of the anterior hindlimb digits
• following tamoxifen treatment at E9.5, 67% of mice exhibit four symmetrical hindlimb digits
• following tamoxifen treatment at E9.5, digits I and II are partially fused in some mice while others have 4 digits indicating the loss of digit II or fusion of digits I and II
• following tamoxifen treatment at E9.5 or E10.5, mice exhibit aplastic or severely hypoplastic femurs that do not articulate with the pelvis
• following tamoxifen treatment at E9.5 or E10.5, mice exhibit aplastic or severely hypoplastic femurs that do not articulate with the pelvis
• following tamoxifen treatment at E9.5 or E10.5, mice exhibit hypoplastic fibulas
• following tamoxifen treatment at E9.5 and E10.5, the hindlimb is shorter than in wild type mice at E14.5
• following tamoxifen treatment at E10.5, some mice exhibit a metatarsal of the first digit that originates near the middle of the metatarsal of digit two instead of near the tarsal bone

embryo
• following tamoxifen treatment at E7.5, limb buds form but are degenerating by E11.5 with hindlimb limited outgrowth
• following tamoxifen treatment at E6.5, mice die at E10.5 due to failure of chorioallantoic fusion
• following tamoxifen treatment at E7.5, 50% of mice die at E10.5 due to failure of chorioallantoic fusion

skeleton
• following tamoxifen treatment at E9.5, 33% of mice exhibit fusion of the anterior hindlimb digit; some with parital fusions of digits I and II and others with 4 digits indicating the loss of digit II or fusion of digits I and II
• following tamoxifen treatment at E10.5, 42% of mice exhibit fusion of the anterior hindlimb digits
• following tamoxifen treatment at E9.5 or E10.5, mice exhibit aplastic or severely hypoplastic femurs that do not articulate with the pelvis
• following tamoxifen treatment at E9.5 or E10.5, mice exhibit aplastic or severely hypoplastic femurs that do not articulate with the pelvis
• following tamoxifen treatment at E9.5 or E10.5, mice exhibit hypoplastic fibulas
• following tamoxifen treatment at E10.5, some mice exhibit a metatarsal of the first digit that originates near the middle of the metatarsal of digit two instead of near the tarsal bone
• following tamoxifen treatment at E9.5 or E10.5, mice exhibit abnormal pelvic connections and hypoplastic pelvises




Genotype
MGI:4442421
cn4
Allelic
Composition
Tbx4tm1.2Pa/Tbx4tm1.2Pa
Tg(Prrx1-cre/ERT2)1Mlgn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx4tm1.2Pa mutation (1 available); any Tbx4 mutation (23 available)
Tg(Prrx1-cre/ERT2)1Mlgn mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• at E16.5 in contrast to wild-type hindlimbs, in the analogous regions to the musculus lumbricales (Lum) and m flexor digitorum brevis (fdb) in mutant limbs, muscles misinsert and display the wrong shape with tamoxifen treatment at E10.5
• all limb musculature is affected
• limb muscle formation is unaffected if tamoxifen administration is done at E12.5
• terminal differentiation of limb muscle is not affected





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory