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|Institutional Source||Beutler Lab|
|Gene Name||APC membrane recruitment 1|
|Synonyms||Fam123b, Wtx, 2810002O09Rik, Amer1|
|Is this an essential gene?||Not available|
|Stock #||R6011 (G1)|
|Chromosomal Location||95420318-95444872 bp(-) (GRCm38)|
|Type of Mutation||small insertion (1 aa in frame mutation)|
|DNA Base Change (assembly)||ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC to ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC at 95427283 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000109502 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084535]|
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
PHENOTYPE: Male mice hemizygous for a null mutation display neonatal lethality with cardiac overgrowth, bone overgrowth, bilateral or unilateral renal agenesis coupled with renal overgrowth, adipocyte and spleen hypoplasia, and altered mesenchymal progenitor cell fate specification. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Amer1||
(F):5'- TTGGGAGCAGACTCTTGCTG -3'
(R):5'- GATGGGACCAAGCGAAGTTC -3'
(F):5'- GTGTCAAAAGTTCTCCAAGGCCTAG -3'
(R):5'- CAAGCGAAGTTCCTGCTTGGTAAC -3'