Phenotypes associated with this allele

• Allele Symbol: Hand2^tm1.1Zllr
• Allele Name: targeted mutation 1.1, Rolf Zeller
• Allele ID: MGI:4453960
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gli3^Xt-J/Gli3^Xt-J Hand2^tm1.1Zllr/Hand2^tm1.2Zllr Tg(Prrx1-cre)1Cjt/0	involves: 129 * BALB/cJ * C3H/HeJ * C57BL/6 * SJL	MGI:4453963
cn2	Hand2^tm1.1Zllr/Hand2^tm1.2Zllr Tg(Prrx1-cre)1Cjt/0	involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6 * SJL	MGI:4453962

Genotype
MGI:4453963

cn1

• Allelic Composition: Gli3^Xt-J/Gli3^Xt-J; Hand2^tm1.1Zllr/Hand2^tm1.2Zllr; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129 * BALB/cJ * C3H/HeJ * C57BL/6 * SJL

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

limbs/digits/tail

abnormal autopod morphology ( J:159210 )

• digits with undetermined identities in forelimb autopod at E14.5

postaxial polydactyly ( J:159210 )

• extreme postaxial polydactyly in forelimb autopod at E14.5

preaxial polydactyly ( J:159210 )

• extreme preaxial polydactyly in forelimb autopod at E14.5

abnormal forelimb stylopod morphology ( J:159210 )

• shortening of the stylopod in forelimbs at E14.5

abnormal forelimb zeugopod morphology ( J:159210 )

• symmetrical forelimb zeugopodal bones and elbow joints at E14.5

abnormal limb development ( J:159210 )

• duplicated elbow-like structure in forelimbs at E14.5

• stunted forelimbs at E14.5

• little phenotypic variability

• survival of the zeugopod and autopod progenitors is restored in contrast to Tg(Prrx1-cre)1Cjt/o, Hand2^tm1.1Zllr, Hand2^tm1.2Zllr limbs

Genotype
MGI:4453962

cn2

• Allelic Composition: Hand2^tm1.1Zllr/Hand2^tm1.2Zllr; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6 * SJL

limbs/digits/tail

abnormal autopod morphology ( J:159210 )

• distal truncations of the forelimb skeleton and loss of the autopod in most severely affected cases at E14.5 (35%)

• fused tarsal bones in hindlimb at E14.5

abnormal forelimb zeugopod morphology ( J:159210 )

• variable skeletal phenotypes at E14.5

• shortened and fused radius and ulna in most severely affected cases (35%)

• formation of two misplaced zeugopodal bones (39%) in the most hypomorphic phenotype (weak)

• formation of one zeugopodal bone (26%) in the less hypomorphic phenotype (intermediate)

abnormal hindlimb morphology ( J:159210 )

• formation of an autopod with 4-5 digits in hindlimb at E14.5

• the formation of digit 2 and/or 3 in hindlimb is always affected

abnormal digit development ( J:159210 )

• variable skeletal phenotypes in forelimb at E14.5

• distal truncations of the forelimb skeleton and loss of the autopod in most severely affected cases at E14.5 (35%)

• formation of three anterior digits and a hypoplastic digit that resembles digit 4 (39%) in the most hypomorphic phenotype (weak) in forelimb

• formation of two digits (26%) in the less hypomorphic phenotype (intermediate) in forelimb

• formation of an autopod with 4-5 digits in hindlimb at E14.5

• the formation of digit 2 and/or 3 in hindlimb is always affected

abnormal interdigital cell death ( J:159210 )

• in the most severely affected forelimb buds, the apoptotic domain expands distal-anterior along the entire proximo-distal axis at E10.25, E10.75 and E11

cellular

abnormal interdigital cell death ( J:159210 )

• in the most severely affected forelimb buds, the apoptotic domain expands distal-anterior along the entire proximo-distal axis at E10.25, E10.75 and E11

increased apoptosis ( J:159210 )

• in the most severely affected forelimb buds, the apoptotic domain expands distal-anterior along the entire proximo-distal axis at E10.25, E10.75 and E11