|Institutional Source||Beutler Lab|
|Gene Name||collagen, type VII, alpha 1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R6991 (G1)|
|Chromosomal Location||108953586-108984875 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 108983919 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000107701 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026740] [ENSMUST00000052724] [ENSMUST00000112070]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col7a1||
(F):5'- TGTGTCCCAGAACTAGCAGG -3'
(R):5'- AACGATTGGCATTCCCTCCG -3'
(F):5'- AGAACTAGCAGGGGTCTCCTC -3'
(R):5'- GGGATGACAGGCTGTGC -3'