|Institutional Source||Beutler Lab|
|Gene Name||collagen, type IV, alpha 1|
|Synonyms||Del(8)Bru44H, Svc, Raw, Del(8)44H, Bru, Col4a-1, alpha1(IV) collagen|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6862 (G1)|
|Chromosomal Location||11198423-11312826 bp(-) (GRCm38)|
|Type of Mutation||utr 3 prime|
|DNA Base Change (assembly)||A to G at 11202926 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000147951 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033898] [ENSMUST00000209735]|
AA Change: S1575P
AA Change: S1575P
AA Change: S258P
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
FUNCTION: This gene encodes the alpha-1 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of two alpha-1 and one alpha-2 subunits that assembles into a type IV collagen network. This gene is located adjacent to the gene encoding alpha-2 subunit. Mice lacking both the alpha-1 and alpha-2 subunits of collagen IV die in utero due to structural deficiencies in the basement membranes and certain mutations in this gene cause perinatal cerebral hemorrhage and porencephaly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col4a1||
(F):5'- CTGTAGACCGCAAGAGCAACAG -3'
(R):5'- GTACAACCAAAGAGGAGTCCCTG -3'
(F):5'- GACCAGGCTCCAAGTTACATTC -3'
(R):5'- CAAAGAGGAGTCCCTGAGCCTG -3'