|Institutional Source||Beutler Lab|
|Gene Name||fibroblast growth factor 10|
|Synonyms||Gsfaey17, AEY17, FGF-10|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5992 (G1)|
|Chromosomal Location||118669791-118792115 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 118715508 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Valine at position 42 (D42V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022246 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022246]|
AA Change: D42V
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: D42V
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants die at birth with multiple abnormalities including absence of lungs, severely truncated limbs, open eyelids, incomplete external genitalia, arrested pancreatic development, lack of mammary glands and impaired epidermal development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fgf10||
(F):5'- CCAGTATGTTCCTTCTGATGAGAC -3'
(R):5'- GAGAGGAGCACGCATTTGTTAC -3'
(F):5'- TGAGACAATTTCCAGTGCCG -3'
(R):5'- AGGAGCACGCATTTGTTACTTACTG -3'