|Institutional Source||Beutler Lab|
|Gene Name||homeobox C8|
|Essential gene?||Probably essential (E-score: 0.810)|
|Stock #||R8329 (G1)|
|Chromosomal Location||102990607-102994111 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 102991111 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Cysteine at position 111 (Y111C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001703 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001703]|
AA Change: Y111C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y111C
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit abnormal growth and axial skeleton morphology. Mice homozygous for a knock-out allele exhibit postnatal lethality, axial skeletal defects, abnormal growth, and abnormal gait. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxc8||
(F):5'- ACCACGTCCAAGACTTCTTC -3'
(R):5'- TTTCAATCTCCCAGGAACCC -3'
(F):5'- AGACTTCTTCCACCACGGC -3'
(R):5'- GGAGAGACCCCCAAAGCCAG -3'