|Institutional Source||Beutler Lab|
|Gene Name||thyrotropin releasing hormone|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3874 (G1)|
|Chromosomal Location||92242061-92244650 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 92243698 bp (GRCm38)|
|Amino Acid Change||Valine to Glutamic Acid at position 61 (V61E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006046 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006046]|
AA Change: V61E
PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: V61E
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
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'- TCTAACACTGTGGTCCCAAGGG -3'
(R):5'- GGCGGTGCATTTACCCTTAC -3'
(F):5'- TCCCAAGGGCTGGTAACCTC -3'
(R):5'- ACTCCAAGATGCAGGGACCTTG -3'