|Institutional Source||Beutler Lab|
|Gene Name||forkhead box N1|
|Synonyms||whn, D11Bhm185e, Hfh11|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7176 (G1)|
|Chromosomal Location||78357577-78386558 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 78360867 bp|
|Amino Acid Change||Arginine to Glycine at position 513 (R513G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000103929 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000108294]|
|Predicted Effect||possibly damaging
AA Change: R513G
PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: R513G
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene is part of the forkhead family or "winged-helix" transcription factors that are important in developmental processes, immune system regulation, metabolism, cancer and aging. This gene family has over 100 members, subdivided into classes (A-Q) based on phylogeny. The encoded protein is proposed to regulate development of the thymus and differentiation of keratinocytes. Mutations in this gene cause severe primary T-cell immunodeficiency and congenital alopecia. In mouse mutations of this gene underlie the phenotype of the nude mouse, which has been widely used as a model system in oncology, immunology, dermatology, and transplantation studies. In humans mutations in this gene have been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygotes for different mutations have in genetically determined absence or loss of hair and failed hair keratinization, premature lethality (differing by genetic background) and absence of thymus, resulting in multiple immune abnormalities. Heterozygotes have enlarged thymuses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Foxn1||
(F):5'- CGCCTCAGGTGACAAGAAAC -3'
(R):5'- TGGACAGCCTCATTGGAGAC -3'
(F):5'- CCTCAGGTGACAAGAAACTCAGG -3'
(R):5'- AAAAACTGGGCTCTCCGCTG -3'