|Institutional Source||Beutler Lab|
|Gene Name||collagen and calcium binding EGF domains 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6752 (G1)|
|Chromosomal Location||66045302-66302739 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to T at 66076307 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000117636 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061103] [ENSMUST00000130300]|
|Predicted Effect||probably benign
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality associated with edema and absence of lymphatic vessels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccbe1||
(F):5'- TTCTGTTGCCATTGAAGTGC -3'
(R):5'- TGGGTCATCTGACAGAGTCAC -3'
(F):5'- GCCATTGAAGTGCTTGGCTC -3'
(R):5'- TCTGACAGAGTCACTATGAAAACCTG -3'