|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.126)|
|Stock #||R1769 (G1)|
|Chromosomal Location||130576173-130577054 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 130576300 bp (GRCm38)|
|Amino Acid Change||Arginine to Tryptophan at position 31 (R31W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028764 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028764] [ENSMUST00000046001]|
AA Change: R31W
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: R31W
|Meta Mutation Damage Score||0.8696|
|Coding Region Coverage||
|Validation Efficiency||100% (91/91)|
FUNCTION: This gene encodes a preproprotein that is processed to produce oxytocin and neurophysin 1. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin 1. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation, the stress response and complex sexual and maternal behavior, as well as in the regulation of water excretion, salt appetite, blood pressure and cardiovascular functions. Deletion of this gene in mouse reduces bone formation resulting in osteoporosis. [provided by RefSeq, Dec 2013]
PHENOTYPE: Female homozygotes for targeted null mutations are unable to release milk for their suckling pups, while mutant males fail to develop social memory and are less aggressive. Both genders exhibit increased salt intake. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Oxt||
(F):5'- TCTGTGACCAGTCATGCTGTCACC -3'
(R):5'- AGAGGGAGCCTAACACTTCCCAAAG -3'
(F):5'- TGTCACCCTCTTTAGACAGTG -3'
(R):5'- AAAGCCCTGGGTTCCCAC -3'