|Institutional Source||Beutler Lab|
|Gene Name||Bloom syndrome, RecQ like helicase|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||RF001 (G1)|
|Chromosomal Location||80454733-80535119 bp(-) (GRCm38)|
|Type of Mutation||small insertion (4 aa in frame mutation)|
|DNA Base Change (assembly)||CTCCTCC to CTCCTCCTCCTCGTCCTCC at 80512927 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000127995 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081314] [ENSMUST00000170315]|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Blm||
(F):5'- AACTGTCCTGTGTACCGCTG -3'
(R):5'- ATGCGTTTGCTTCACTGGC -3'
(F):5'- CCCAGTGCTCAGCTTTAGATTAG -3'
(R):5'- GCTTCACTGGCTAAAAATCCTG -3'