|Institutional Source||Beutler Lab|
|Gene Name||fibrillin 1|
|Is this an essential gene?||Probably essential (E-score: 0.916)|
|Stock #||R0510 (G1)|
|Chromosomal Location||125300594-125507993 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to G at 125342925 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000099524 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028633] [ENSMUST00000103234]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
|Validation Efficiency||99% (102/103)|
Strain: 1934905; 4880665
FUNCTION: This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Homozygous knockout mice for this gene exhibit impaired aortic development and early postnatal death, which was attributed to a deficiency in the fibrillin-1 protein. Mice with a hypomorphic allele of this gene exhibit impaired glucose homeostasis, likely due to a reduction in serum asprosin levels. [provided by RefSeq, Apr 2016]
PHENOTYPE: Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema. Mice heterozygous for a knock-in allele exhibit scleroderma. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbn1||
(F):5'- AGGCGGGCTGTATCTCACTACAAC -3'
(R):5'- GGCTGAGGACCTGCTGTTCATATC -3'
(F):5'- TTCAAAGGAGGCAATCACTCTG -3'
(R):5'- TCATATCTGGGTTTTAGGTCCTC -3'