|Institutional Source||Beutler Lab|
|Gene Name||collagen, type XVIII, alpha 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5772 (G1)|
|Chromosomal Location||77052178-77166548 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 77166343 bp|
|Amino Acid Change||Valine to Alanine at position 10 (V10A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080358 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081654]|
AA Change: V10A
AA Change: V10A
|Meta Mutation Damage Score||0.0859|
|Coding Region Coverage||
|Validation Efficiency||98% (64/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col18a1||
(F):5'- AACCCTAGAGAATGAATGGCC -3'
(R):5'- TCCTACCAGATTGCTCACCG -3'
(F):5'- ACCATCGCGCTACCCTTGAG -3'
(R):5'- AGATTGCTCACCGGGTCCTC -3'