|Institutional Source||Beutler Lab|
|Gene Name||wingless-type MMTV integration site family, member 8B|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8003 (G1)|
|Chromosomal Location||44493472-44514273 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 44511957 bp|
|Amino Acid Change||Cysteine to Serine at position 328 (C328S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042867 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041163] [ENSMUST00000063632]|
|Predicted Effect||probably damaging
AA Change: C328S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C328S
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and healthy with no evidence of hippocampal or hypothalamic defects and normal cell proliferation in the neurogenic region of the adult dentate gyrus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wnt8b||
(F):5'- GACTACTGCCTGGAGAACAAG -3'
(R):5'- AGAATCTCTGGGCTAGGGAGTG -3'
(F):5'- TGCCTGGAGAACAAGACCCTG -3'
(R):5'- CTCTATTTCCGGGGGTCTCTAAAG -3'