|Institutional Source||Beutler Lab|
|Gene Name||GTP cyclohydrolase 1|
|Is this an essential gene?||Probably essential (E-score: 0.883)|
|Stock #||R6950 (G1)|
|Chromosomal Location||47153895-47189413 bp(-) (GRCm38)|
|Type of Mutation||start codon destroyed|
|DNA Base Change (assembly)||A to T at 47189266 bp|
|Amino Acid Change||Methionine to Lysine at position 1 (M1K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000087405 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000089959]|
|Predicted Effect||probably null
AA Change: M1K
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: M1K
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display bradycardia, reduced L-DOPA levels and embryonic lethality during organogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gch1||
(F):5'- TGGTGAAGTACTGCATGGCG -3'
(R):5'- AATGAAAATATCTCGCGGCGC -3'
(F):5'- CCAGTTTGGGGAGGTTCACC -3'
(R):5'- GAGTCGCCCTGCCATAAAAAGAG -3'