|Institutional Source||Beutler Lab|
|Gene Name||erb-b2 receptor tyrosine kinase 4|
Ncbi RefSeq: NM_010154.1; MGI:104771
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R1905 (G1)|
|Chromosomal Location||68032186-69108059 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to T at 68075410 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000114123 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000119142] [ENSMUST00000121473]|
|Coding Region Coverage||
|Validation Efficiency||99% (90/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit cardiac defects, alterations in hindbrain development, and midgestational lethality. Heterozygotes show schizophrenia-like behavior. Genetically rescued females show mammary defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Erbb4||
(F):5'- TGTAACTTAGTGGCATACTATTACCTC -3'
(R):5'- GTGCATCGTGATACGTGTTCATTC -3'
(F):5'- CAGAGAAACATTTTGCAGGTAA -3'
(R):5'- CGTGTTCATTCAAATTGTGACAG -3'