|Institutional Source||Beutler Lab|
|Gene Name||polyhomeotic 1|
|Synonyms||rae28, Rae-28, Mph1, Edr1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6491 (G1)|
|Chromosomal Location||122317731-122340561 bp(-) (GRCm38)|
|Type of Mutation|
|DNA Base Change (assembly)||A to G at 122334964 bp|
|Amino Acid Change|
|Meta Mutation Damage Score||0.0869|
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit perinatal lethality, posterior skeletal transformations and defects in neural crest derived tissues, including ocular abnormalities, cleft palate, parathyroid and thymic hypoplasia and cardiac anomalies. Hematopoiesis is impaired in fetal livers. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Phc1||
(F):5'- CCTCTAAAGAGTCTCCCACAGTTC -3'
(R):5'- TCAGATGCTGTGATAGTCGTCC -3'
(F):5'- TCATACTGCAACCTTAATCTAAGAAC -3'
(R):5'- TTCGCAACAGTGACGCACATG -3'