|Institutional Source||Beutler Lab|
|Gene Name||collagen, type IX, alpha 1|
|Is this an essential gene?||Probably non essential (E-score: 0.154)|
|Stock #||R7177 (G1)|
|Chromosomal Location||24177610-24252684 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 24195417 bp|
|Amino Acid Change||Leucine to Glutamine at position 13 (L13Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000085687 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000054588] [ENSMUST00000088349]|
|Predicted Effect||probably benign
AA Change: L13Q
AA Change: L13Q
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted mutation show no conspicuous skeletal abnormalities at birth but develop early-onset degenerative joint disease resembling osteoarthritis as well as progressive hearing loss; restoration and remodeling of trabecular bone is perturbed with minimal effects on cortical bone. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col9a1||
(F):5'- AAGAAACCCAGGTCCCCTTG -3'
(R):5'- GGGTACTCTGACTTCTCACACC -3'
(F):5'- TTGGCCAGGCACCTTTG -3'
(R):5'- GTACTCTGACTTCTCACACCCAGAAC -3'