|Institutional Source||Beutler Lab|
|Gene Name||histidine decarboxylase|
|Synonyms||Hdc-s, Hdc-a, Hdc-c, Hdc-e, L-histidine decarboxylase|
|Is this an essential gene?||Probably essential (E-score: 0.751)|
|Stock #||R6211 (G1)|
|Chromosomal Location||126593667-126619299 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 126593977 bp (GRCm38)|
|Amino Acid Change||Leucine to Glutamine at position 658 (L658Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028838 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028838]|
AA Change: L658Q
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: L658Q
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mast cells, altered anxiety-related and nociceptive behavior, altered cognitive function, increased weight gain, visceral adiposity, increased amount of brown adipose tissue, impaired glucose tolerance, hyperinsulinemia, and hyperleptinemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hdc||
(F):5'- ATGCCCGCTTAAACTTCCCAG -3'
(R):5'- TATGAGTGCCCAGAAGTCACTC -3'
(F):5'- ACAATCTGTTGTGGATCACGAAGAC -3'
(R):5'- GAAGTCACTCCCCGCAGACG -3'