|Institutional Source||Beutler Lab|
|Gene Name||wingless-type MMTV integration site family, member 1|
|Is this an essential gene?||Probably essential (E-score: 0.762)|
|Stock #||R1773 (G1)|
|Chromosomal Location||98789857-98793837 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 98791757 bp|
|Amino Acid Change||Serine to Proline at position 142 (S142P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023734 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023734]|
|Predicted Effect||probably damaging
AA Change: S142P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S142P
|Coding Region Coverage||
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 is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: In mild form, homozygotes have ataxia and hypertonia, with malformation of anterior cerebellum, deep midline fissure, and impaired fertility. In the severe form, there is virtually no midbrain and cerebellum and mutants die within hours of birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wnt1||
(F):5'- CATTCCATGCTTCGCACACATGAC -3'
(R):5'- ATCAGCTCAGGAACCTCTTTGCCC -3'
(F):5'- CACATGACTCCAAGGATGTTG -3'
(R):5'- ACACCGACGTACCGTTCG -3'