|Institutional Source||Beutler Lab|
|Gene Name||forkhead box D1|
|Synonyms||Hfh10, BF-2, FREAC4, Hfhbf2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6880 (G1)|
|Chromosomal Location||98354242-98359305 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 98354717 bp|
|Amino Acid Change||Aspartic acid to Alanine at position 33 (D33A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000100725 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000105098]|
AA Change: D33A
AA Change: D33A
|Meta Mutation Damage Score||0.0869|
|Coding Region Coverage||
|Validation Efficiency||97% (62/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for this targeted mutation die within 24 hours after birth with severe defects in nephrogenesis, and abnormal development of the renal collecting system. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Foxd1||
(F):5'- AAAGGTCAAGTCTAGAGCGC -3'
(R):5'- TGATGAGCGCGATGTACGAG -3'
(F):5'- AGCCCTGCTCGCCAAGTAG -3'
(R):5'- TCACCAGCGGATTCTTAGCG -3'