Phenotypes associated with this allele

• Allele Symbol: Col1a1^{tm1(hs1473-PITX1)Smun}
• Allele Name: targeted mutation 1, Stefan Mundlos
• Allele ID: MGI:5529077
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Col1a1^tm1(hs1473-PITX1)Smun/Col1a1^+	involves: 129S4/SvJae * C57BL/6	MGI:5529078

Genotype
MGI:5529078

ht1

• Allelic Composition: Col1a1^{tm1(hs1473-PITX1)Smun}/Col1a1⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

limbs/digits/tail

fused carpal bones ( J:203670 )

• resembling the shape of the calcaneus of the hindlimb

abnormal digit morphology ( J:203670 )

• digit I has two phalanges

oligodactyly ( J:203670 )

• two digits are missing

syndactyly ( J:203670 )

• digit I and II are fused

abnormal forelimb morphology ( J:203670 )

• forelimb-to-hindlimb transformation

abnormal humerus morphology ( J:203670 )

• the distal head of the humerus is more similar to the distal femur

abnormal forelimb zeugopod morphology ( J:203670 )

• loss of the olecranon

• only one zeugopod bone present resembling the shape of the tibia at the proximal head

skeleton

fused carpal bones ( J:203670 )

• resembling the shape of the calcaneus of the hindlimb

abnormal humerus morphology ( J:203670 )

• the distal head of the humerus is more similar to the distal femur