|Institutional Source||Beutler Lab|
|Gene Name||homeobox A13|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7770 (G1)|
|Chromosomal Location||52257694-52260880 bp(-) (GRCm38)|
|Type of Mutation||critical splice acceptor site|
|DNA Base Change (assembly)||G to A at 52260267 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000110059 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047993] [ENSMUST00000114416] [ENSMUST00000147595]|
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit agenesis of both the urinary bladder and the caudal portion of the Mullerian ducts, premature stenosis of the umbilical arteries, loss of the most anterior digit of all feet, and death around mid-gestation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxa13||
(F):5'- CCCTGATGGTAGAAAGCAAACTC -3'
(R):5'- CGAGCTCAACAAGAACATGG -3'
(F):5'- TGGTAGAAAGCAAACTCCTTGGC -3'
(R):5'- AGTGCCGCAACCTGATG -3'