|Institutional Source||Beutler Lab|
|Gene Name||thyrotropin releasing hormone|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6463 (G1)|
|Chromosomal Location||92242061-92244650 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 92242843 bp|
|Amino Acid Change||Methionine to Lysine at position 164 (M164K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006046 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006046]|
|Predicted Effect||possibly damaging
AA Change: M164K
PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: M164K
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory hormone. The mouse proprotein contains five thyrotropin-releasing hormone tripeptides. Thyrotropin-releasing hormone is involved in the regulation and release of thyroid-stimulating hormone, as well as prolactin. Disruption of this gene results in hypothyroidism, elevated thyroid-stimulating hormone levels, and hyperglycemia. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit high postnatal mortality, impaired thermoregulation, and loss of white fat. Survivors show ketosis, microvesicular fat accumulation, elevated serum lipids, and behavioral abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trh||
(F):5'- TTTGGCCACAAATCCCCTGG -3'
(R):5'- GATTCCTGGATCACAAAACGCC -3'
(F):5'- AAATCCCCTGGGGCCCAC -3'
(R):5'- CCAGCATCCGGGCAAAAGG -3'