|Institutional Source||Beutler Lab|
|Gene Name||LARGE xylosyl- and glucuronyltransferase 1|
|Synonyms||froggy, BPFD#36, fg, enr|
|Is this an essential gene?||Possibly non essential (E-score: 0.453)|
|Stock #||R0791 (G1)|
|Chromosomal Location||72814599-73353540 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to G at 73048479 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000148336 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004497] [ENSMUST00000119826] [ENSMUST00000212459]|
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes exhibit a progressive myopathy, abnormal posture, thoracic kyphosis, calcium deposits in muscle, loss of Schwann cells and myelin, eye and CNS defects, deafness, reduced growth, and death around 4 months. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Large1||
(F):5'- GCTCTGCAATGTCTGTTGCAAAGG -3'
(R):5'- GGAAGCACTCACACTAACTTAGCCG -3'
(F):5'- CTGTTGCAAAGGTGATGTCGG -3'
(R):5'- TGCTAATAGCAATAAAGCCTGTC -3'