Phenotypes associated with this allele

• Allele Symbol: 2700049A03Rik^tm1.1Arte
• Allele Name: targeted mutation 1.1, TaconicArtemis
• Allele ID: MGI:5287574
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	2700049A03Rik^tm1.1Arte/2700049A03Rik^tm1.1Arte Tg(Prrx1-cre)1Cjt/0	involves: C57BL/6J * C57BL/6NTac * SJL/J	MGI:5287593

Genotype
MGI:5287593

cn1

• Allelic Composition: 2700049A03Rik^tm1.1Arte/2700049A03Rik^tm1.1Arte; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: C57BL/6J * C57BL/6NTac * SJL/J

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

limbs/digits/tail

abnormal limb mesenchyme morphology ( J:175541 )

• at E10.5 all mesenchymal cells in the forelimb lack cilia and only about 2% of hindlimb cells retain cilia

abnormal carpal bone morphology ( J:175541 )

• develop up to 16 carpals some of which are fused

abnormal digit morphology ( J:175541 )

• fore- and hind-limb digits usually consist of 2 rather than 3 phalanges and some digits are bifurcated

• however, in some cases on the hindlimb the penultimate posterior digit develops three phalanges and the most posterior metatarsal is of wild-type shape

brachydactyly ( J:175541 )

polydactyly ( J:175541 )

• hindlimbs typically have only 1 extra digit

polysyndactyly ( J:175541 )

• forelimbs have up to 9 digits and these digits show soft tissue syndactyly

• develop up to 16 carpals some of which are fused

short humerus ( J:175541 )

short radius ( J:175541 )

short ulna ( J:175541 )

short femur ( J:175541 )

short fibula ( J:175541 )

short tibia ( J:175541 )

abnormal digit development ( J:175541 )

• formation of digit condensations is delayed by 6-12 hours, interdigital spaces are not as precisely defined and digit spacing is not always as regular as in wild-type mice

abnormal embryonic autopod plate morphology ( J:175541 )

• forelimb foot plates are slightly broader at E11.5 and become progressively broader at E12.5 and E13.5

• distal outgrowth is reduced at E13.5

• at E13.5 hand plates expand more ventrally becoming thicker

• mean volume of the hand plate is increased at E11.5

short limbs ( J:175541 )

cellular

abnormal cilium morphology ( J:175541 )

• only 6% of cultured fibroblast cells from E12.5 fore- and hind-limbs have cilia after 48 hours of serum starvation compared to 74% of wild-type fibroblasts

decreased fibroblast cell migration ( J:175541 )

• in a scratch test cultured fibroblast cells from E12.5 fore- and hind-limbs migrate more slowly and with less directionality

• cultured fibroblast cells from E12.5 fore- and hind-limbs have fewer stress fibers and focal adhesions

embryo

abnormal limb mesenchyme morphology ( J:175541 )

• at E10.5 all mesenchymal cells in the forelimb lack cilia and only about 2% of hindlimb cells retain cilia

skeleton

abnormal carpal bone morphology ( J:175541 )

• develop up to 16 carpals some of which are fused

decreased length of long bones ( J:175541 )

• each skeletal element of the fore- and hind-limbs is 40-70% shorter

short humerus ( J:175541 )

short radius ( J:175541 )

short ulna ( J:175541 )

short femur ( J:175541 )

short fibula ( J:175541 )

short tibia ( J:175541 )

short scapula ( J:175541 )

abnormal skeleton development ( J:175541 )

• expression analysis indicates defects in joint development at E13.5 in the forelimbs

abnormal long bone epiphyseal plate morphology ( J:175541 )

• growth plates show an increase in resting chondrocytes and a decrease in columnar and prehypertrophic chondrocytes

abnormal endochondral bone ossification ( J:175541 )

• ossification of the limb elements is abnormal and absent in the digits at E17.5

• no subperiosteal bone is deposited in the radius and ulna in the forelimbs thus no bone collar is formed