Phenotypes Associated with This Genotype

Genotype
MGI:3842982

• Allelic Composition: Ihh^tm1.1Dcha/Ihh^tm1.1Dcha
• Genetic Background: either: (involves: 129S/SvEv * FVB/N) or (involves: 129S/SvEv * FVB/N * ICR)

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

skeleton

abnormal appendicular skeleton morphology ( J:147878 )

• abnormal and shortened limb skeletal elements are visible by E13.5

abnormal phalanx morphology ( J:147878 )

• absent middle phalange on digit V

brachyphalangia ( J:147878 )

• severely shortened middle phalanges on digits II - IV

abnormal cartilage development ( J:147878 )

• decrease in the number of proliferating cells in the developing cartilage anlagen of the long bones at E15.5

delayed endochondral bone ossification ( J:147878 )

• expression analysis indicates a delay in endochondral bone ossification at E14.5

limbs/digits/tail

abnormal phalanx morphology ( J:147878 )

• absent middle phalange on digit V

brachyphalangia ( J:147878 )

• severely shortened middle phalanges on digits II - IV

abnormal digit development ( J:147878 )

• marked decrease in the length of the most distal cartilage element before the last joint formation

• decrease in the recruitment of surrounding proliferating mesenchymal cells into the most distal cartilage element

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
brachydactyly type A1		DOID:0110964	OMIM:112500	J:147878