|Institutional Source||Beutler Lab|
|Synonyms||Fer1l3, E030042N20Rik, 2310051D19Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||PIT4791001 (G1)|
|Chromosomal Location||37899036-38043577 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to T at 37982958 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000045036 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041475] [ENSMUST00000172095] [ENSMUST00000226068]|
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene is a member of the ferlin family of proteins, which have been implicated in fusion events in muscle tissue. Members of this family have a carboxy-terminal single pass transmembrane domain and multiple C2 domains, which bind negatively charged phospholipids in the presence of calcium ions. This gene is expressed at high levels in myoblasts and upregulated in damaged skeletal muscle. Mice deficient in this protein display defects in myoblast fusion, muscle regeneration, and angiogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myof||
(F):5'- TTCATTGACACACCAAGGCC -3'
(R):5'- TGCACATCACACCCTCTGAG -3'
(F):5'- AAGGCCCCATGCTTTGG -3'
(R):5'- ACACCCTCTGAGCTCATGGATG -3'