|Institutional Source||Beutler Lab|
|Gene Name||fibrillin 2|
|Synonyms||Fib-2, sy, Sne|
|Is this an essential gene?||Probably essential (E-score: 0.902)|
|Stock #||R8520 (G1)|
|Chromosomal Location||58008623-58209926 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to T at 58038198 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000025497 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025497]|
|AlphaFold||no structure available at present|
|Meta Mutation Damage Score||0.9490|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbn2||
(F):5'- GGAGCATACATACTTCTTTTGTCAG -3'
(R):5'- GGTGCGATCCTAGTAGAAGC -3'
(F):5'- TCATATGATACACACACACACATATG -3'
(R):5'- GGTCTACAGAGCAAGTTTCAGACTC -3'