|Institutional Source||Beutler Lab|
|Gene Name||Indian hedgehog|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7835 (G1)|
|Chromosomal Location||74945315-74951672 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 74946366 bp|
|Amino Acid Change||Valine to Alanine at position 320 (V320A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000128056 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000164097]|
|Predicted Effect||probably damaging
AA Change: V320A
PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: V320A
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes die before or immediately after birth due to respiratory failure, exhibiting limb dwarfism associated with reduced chondrocyte proliferation, ectopic maturation of chondrocytes, and a failure of osteoblast development in endochondral bones. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ihh||
(F):5'- TGGAAGGTGCTCTCTTCTAGC -3'
(R):5'- ATCGAGACTCAGGATCCTCC -3'
(F):5'- TCTTCTAGCAAGAGACGCCC -3'
(R):5'- ACTCAGGATCCTCCGCGTC -3'