Phenotypes associated with this allele

• Allele Symbol: Tbx4^tm1.2Pa
• Allele Name: targeted mutation 1.2, Virginia Papaioannou
• Allele ID: MGI:3811603
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbx4^tm1.2Pa/Tbx4^tm1.2Pa	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:3811611
cn2	Tbx4^tm1.1Pa/Tbx4^tm1.2Pa Tg(Prrx1-cre)1Cjt/0	involves: 129 * C57BL/6J * FVB/N * SJL/J	MGI:3811612
cn3	Tbx4^tm1.2Pa/Tbx4^tm1.2Pa Gt(ROSA)26Sor^tm1(cre/ERT)Brn/Gt(ROSA)26Sor^+	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * FVB/N	MGI:3811615
cn4	Tbx4^tm1.2Pa/Tbx4^tm1.2Pa Tg(Prrx1-cre/ERT2)1Mlgn/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4442421

Genotype
MGI:3811611

hm1

• Allelic Composition: Tbx4^tm1.2Pa/Tbx4^tm1.2Pa
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

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

normal phenotype

no abnormal phenotype detected ( J:117423 )

• mice exhibit no abnormal phenotype

Genotype
MGI:3811612

cn2

• Allelic Composition: Tbx4^tm1.1Pa/Tbx4^tm1.2Pa; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129 * C57BL/6J * FVB/N * SJL/J

limbs/digits/tail

fused phalanges ( J:117423 )

• at E15.5, mice exhibit mild or nonexistent anterior digit fusions

brachydactyly ( J:117423 )

• the second digit of the foot is reduced compared to in wild-type mice

fused tarsal bones ( J:117423 )

• mice exhibit a partial fusion of the tarsals

abnormal hindlimb morphology ( J:117423 )

• 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

short femur ( J:117423 )

• at E15.5, mice exhibit severely hypoplastic femurs that fail to ossify

short fibula ( J:117423 )

• at E15.5, mice exhibit hypoplastic fibulas that fail to ossify

skeleton

fused phalanges ( J:117423 )

• at E15.5, mice exhibit mild or nonexistent anterior digit fusions

fused tarsal bones ( J:117423 )

• mice exhibit a partial fusion of the tarsals

short femur ( J:117423 )

• at E15.5, mice exhibit severely hypoplastic femurs that fail to ossify

short fibula ( J:117423 )

• at E15.5, mice exhibit hypoplastic fibulas that fail to ossify

abnormal pelvic girdle bone morphology ( J:117423 )

• at E15.5, mice exhibit hypoplastic pelvis

• the ischium is fused to the illeum

• neonates exhibit small hips

abnormal ischium morphology ( J:117423 )

• 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: Tbx4^tm1.2Pa/Tbx4^tm1.2Pa; Gt(ROSA)26Sor^{tm1(cre/ERT)Brn}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * FVB/N

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:117423 )

• following tamoxifen treatment at E6.5, all mice die at E10.5 due to failure of chorioallantoic fusion

embryonic lethality during organogenesis, incomplete penetrance ( J:117423 )

• following tamoxifen treatment at E7.5, 50% of mice die at E10.5 due to failure of chorioallantoic fusion

limbs/digits/tail

limbs/digits/tail phenotype ( J:117423 )

N • despite defects in hindlimb formation following treatment with tamoxifen at E9.5 and E10.5, mice exhibit normal hindlimb identity and forelimb development

N • mice treated with tamoxifen at E11.5 exhibit normal hindlimb morphology

abnormal limb bud morphology ( J:117423 )

• following tamoxifen treatment at E7.5, limb buds form but are degenerating by E11.5 with hindlimb limited outgrowth

abnormal autopod morphology ( J:117423 )

• 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

abnormal digit morphology ( J:117423 )

• 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

fused phalanges ( J:117423 )

• 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

hindlimb oligodactyly ( J:117423 )

• 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

absent femur ( J:117423 )

• following tamoxifen treatment at E9.5 or E10.5, mice exhibit aplastic or severely hypoplastic femurs that do not articulate with the pelvis

short femur ( J:117423 )

• following tamoxifen treatment at E9.5 or E10.5, mice exhibit aplastic or severely hypoplastic femurs that do not articulate with the pelvis

short fibula ( J:117423 )

• following tamoxifen treatment at E9.5 or E10.5, mice exhibit hypoplastic fibulas

short hindlimb ( J:117423 )

• following tamoxifen treatment at E9.5 and E10.5, the hindlimb is shorter than in wild type mice at E14.5

abnormal metatarsal bone morphology ( J:117423 )

• 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

abnormal limb bud morphology ( J:117423 )

• following tamoxifen treatment at E7.5, limb buds form but are degenerating by E11.5 with hindlimb limited outgrowth

failure of chorioallantoic fusion ( J:117423 )

• 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

fused phalanges ( J:117423 )

• 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

absent femur ( J:117423 )

• following tamoxifen treatment at E9.5 or E10.5, mice exhibit aplastic or severely hypoplastic femurs that do not articulate with the pelvis

short femur ( J:117423 )

• following tamoxifen treatment at E9.5 or E10.5, mice exhibit aplastic or severely hypoplastic femurs that do not articulate with the pelvis

short fibula ( J:117423 )

• following tamoxifen treatment at E9.5 or E10.5, mice exhibit hypoplastic fibulas

abnormal metatarsal bone morphology ( J:117423 )

• 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

abnormal pelvic girdle bone morphology ( J:117423 )

• following tamoxifen treatment at E9.5 or E10.5, mice exhibit abnormal pelvic connections and hypoplastic pelvises

Genotype
MGI:4442421

cn4

• Allelic Composition: Tbx4^tm1.2Pa/Tbx4^tm1.2Pa; Tg(Prrx1-cre/ERT2)1Mlgn/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

limbs/digits/tail

abnormal hindlimb morphology ( J:157917 )

• 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

abnormal limb development ( J:157917 )