|Institutional Source||Beutler Lab|
|Gene Name||neuregulin 3|
|Is this an essential gene?||Probably non essential (E-score: 0.173)|
|Stock #||R6047 (G1)|
|Chromosomal Location||38368952-39473088 bp(-) (GRCm38)|
|Type of Mutation||critical splice acceptor site|
|DNA Base Change (assembly)||T to A at 38397352 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000134727 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166968] [ENSMUST00000168810] [ENSMUST00000173780]|
|Meta Mutation Damage Score||0.9486|
|Coding Region Coverage||
|Validation Efficiency||100% (36/36)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mutations in this gene result in abnormal, genetic background specific, mammary gland development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nrg3||
(F):5'- TCTATAACCAAAACTTCTAAGCAGC -3'
(R):5'- ATTGTTTAGACTCTTGGTACCACC -3'
(F):5'- CTTCTAAGCAGCAAAAGGAATGTG -3'
(R):5'- ACAAGCTCTTCCAACATTAATATAGG -3'