|Institutional Source||Beutler Lab|
|Gene Name||collagen, type XII, alpha 1|
|Is this an essential gene?||Probably essential (E-score: 0.803)|
|Stock #||R6027 (G1)|
|Chromosomal Location||79598991-79718831 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to T at 79656578 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000112604 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071750] [ENSMUST00000121227]|
|AlphaFold||no structure available at present|
|Meta Mutation Damage Score||0.9479|
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial perinatal lethality, decreased body weight, shorter and slender long bones, altered vertebrae structure, kyphosis, decreased bone strength, and abnormalities in osteoblast differentiation and bone matrix formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col12a1||
(F):5'- CCGAGCTGACTCATACACTC -3'
(R):5'- CCAATACTCCGTATGAAGTCTCCATC -3'
(F):5'- GCTGACTCATACACTCTTCAAAAAG -3'
(R):5'- CTATCCTGATGAGTCTGAAAGCG -3'