Phenotypes associated with this allele

• Allele Symbol: Gli3^tm3.1Blnw
• Allele Name: targeted mutation 3.1, Baolin Wang
• Allele ID: MGI:5780889
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gli3^tm3.1Blnw/Gli3^tm3.1Blnw	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:5810677
cn2	Gli3^tm3.1Blnw/Gli3^+ Tg(Prrx1-cre)1Cjt/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL	MGI:5810678
cn3	Gli3^tm3.1Blnw/Gli3^tm3.1Blnw Tg(Prrx1-cre)1Cjt/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL	MGI:5810679

Genotype
MGI:5810677

hm1

• Allelic Composition: Gli3^tm3.1Blnw/Gli3^tm3.1Blnw
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

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

normal phenotype

no abnormal phenotype detected ( J:199480 )

• adult homozygotes are viable and fertile and do not exhibit any overt phenotypes

Genotype
MGI:5810678

cn2

• Allelic Composition: Gli3^tm3.1Blnw/Gli3⁺; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

limbs/digits/tail

abnormal autopod morphology ( J:199480 )

• ~50% of mice display hindlimb autopods with fused digits, while the rest have normal hindlimb autopods

decreased autopod size ( J:199480 )

• E16.5 forelimb autopods are much smaller than those in control mice

brachydactyly ( J:199480 )

• forelimb digits are shorter

oligodactyly ( J:199480 )

• at E16.5, forelimb digit number varies from 3 to 5, with some digits fused (oligosyndactyly)

• at E16.5, two of 5 mice show normal hindlimb autopods, while the rest show 3 to 5 digits, some of which are fused or partial

syndactyly ( J:199480 )

• forelimb digits are fused and shorter, making it difficult to determine digit number

• ~50% of mice display hindlimb autopods with fused digits

short humerus ( J:199480 )

• at E16.5, the humerus is slightly shorter than that in wild-type controls

abnormal forelimb zeugopod morphology ( J:199480 )

• at E16.5, the forelimb zeugopod elements, radius and ulna, are bent and much shorter than those in control mice

bowed radius ( J:199480 )

• at E16.5

short radius ( J:199480 )

• at E16.5, the radius is much shorter than that in wild-type controls

bowed ulna ( J:199480 )

• at E16.5

short ulna ( J:199480 )

• at E16.5, the ulna is much shorter than that in wild-type controls

short forelimb ( J:199480 )

• adult and E16.5 forelimbs are markedly shorter with consistently smaller autopods than those in control mice

abnormal hindlimb morphology ( J:199480 )

• ~50% of adult and E16.5 mice display hindlimb autopods with fused digits

• however, hindlimb length is normal

short femur ( J:199480 )

• at E16.5, the femur is slightly shorter than that in wild-type controls

• however, patterning appears normal

short fibula ( J:199480 )

• at E16.5, the fibula is slightly shorter than that in wild-type controls

• however, patterning appears normal

short tibia ( J:199480 )

• at E16.5, the tibia is slightly shorter than that in wild-type controls

• however, patterning appears normal

skeleton

short humerus ( J:199480 )

• at E16.5, the humerus is slightly shorter than that in wild-type controls

bowed radius ( J:199480 )

• at E16.5

short radius ( J:199480 )

• at E16.5, the radius is much shorter than that in wild-type controls

bowed ulna ( J:199480 )

• at E16.5

short ulna ( J:199480 )

• at E16.5, the ulna is much shorter than that in wild-type controls

short femur ( J:199480 )

• at E16.5, the femur is slightly shorter than that in wild-type controls

• however, patterning appears normal

short fibula ( J:199480 )

• at E16.5, the fibula is slightly shorter than that in wild-type controls

• however, patterning appears normal

short tibia ( J:199480 )

• at E16.5, the tibia is slightly shorter than that in wild-type controls

• however, patterning appears normal

short scapula ( J:199480 )

• at E16.5, the distal scapula is slightly shorter than that in wild-type controls

failure of endochondral bone ossification ( J:199480 )

• at E16.5, forelimb autopods often lack ossification

Genotype
MGI:5810679

cn3

• Allelic Composition: Gli3^tm3.1Blnw/Gli3^tm3.1Blnw; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

mortality/aging

perinatal lethality, incomplete penetrance ( J:199480 )

• all but two mice died before or immediately after birth

limbs/digits/tail

abnormal limb morphology ( J:199480 )

• mice display limb phenotypes that resemble those observed in Shh^tm1Chg homozygotes

abnormal autopod morphology ( J:199480 )

• at E16.5, the forelimb autopod lacks all digits and is presented by a single cartilage element

• at E16.5, most hindlimb autopods have 3 identifiable first digits

adactyly ( J:199480 )

• forelimb autopods lack all digits

oligodactyly ( J:199480 )

• surviving newborns exhibit a single digit in the forelimbs and 1 or 3 digits in the hindlimbs

• at E16.5, most hindlimbs appear to have 3 digits, or occasionally only one

short humerus ( J:199480 )

• at E16.5, the humerus is significantly shorter than that in wild-type controls

abnormal forelimb zeugopod morphology ( J:199480 )

• at E16.5, the forelimb zeugopod is presented by a single bone element and is significantly shorter than that in wild-type controls

absent radius ( J:199480 )

• at E16.5

absent ulna ( J:199480 )

• at E16.5

short fibula ( J:199480 )

• at E16.5, the fibula is very short

short tibia ( J:199480 )

• at E16.5, the tibia is very short

short limbs ( J:199480 )

• surviving newborns exhibit extremely short limbs

short forelimb ( J:199480 )

• forelimbs are consistently very short with no obvious digit structure, regardless of the age of embryos and newborns

• at E16.5, all forelimb bone elements are shorter than those observed in Shh^tm1Chg homozygotes

short hindlimb ( J:199480 )

• at E16.5, hindlimbs are short, though not as much as the forelimbs

• at E16.5, all hindlimb bone structures are much or slightly shorter than those observed in wild-type controls or Shh^tm1Chg homozygotes, respectively

• hindlimb phenotypes are more variable than forelimb phenotypes, most likely due to low levels of cre in the hindlimbs

skeleton

short humerus ( J:199480 )

• at E16.5, the humerus is significantly shorter than that in wild-type controls

absent radius ( J:199480 )

• at E16.5

absent ulna ( J:199480 )

• at E16.5

short fibula ( J:199480 )

• at E16.5, the fibula is very short

short tibia ( J:199480 )

• at E16.5, the tibia is very short

short scapula ( J:199480 )

• at E16.5, the scapula is significantly shorter than that in wild-type controls

failure of endochondral bone ossification ( J:199480 )

• at E16.5, forelimb autopods lack ossification