|Institutional Source||Beutler Lab|
|Gene Name||dishevelled associated activator of morphogenesis 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8187 (G1)|
|Chromosomal Location||71831078-71992333 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 71895828 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glycine at position 22 (D22G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000082406 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000085299]|
AA Change: D22G
AA Change: D22G
|Meta Mutation Damage Score||0.2571|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygotes for a gene trap allele show reduced fetal size, partial embryonic and neonatal lethality, altered cytoskeletal structure, cardiac defects including ventricular noncompaction, double outlet right ventricles and ventricular septal defects, and impaired cell adhesion and wound healing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Daam1||
(F):5'- GAAGCACAGGGAACTCTCTTTTG -3'
(R):5'- TGGTGAAGGTTCAGACACAG -3'
(F):5'- CACAGGGAACTCTCTTTTGTGTTG -3'
(R):5'- CACAGGGAGTGGGCAAACC -3'