Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Scube2tm1.1Rbya
Name:	signal peptide, CUB domain, EGF-like 2; targeted mutation 1.1, Ruey-Bing Yang
MGI ID:	MGI:5698367
Gene:	Scube2  Location: Chr7:109397897-109464886 bp, - strand  Genetic Position: Chr7, 57.53 cM
Alliance:	Scube2tm1.1Rbya page

Germline Transmission:	Earliest citation of germline transmission: J:226676
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: Cre-mediated recombination of Scube2tm1Rbya resulted in a 65kb deletion encompassing exons 2-21 of the gene. The deleted region contains the coding sequences for nine tandem epidermal growth factor-like domains, the spacer region, three cysteine-rich repeats, and the CUB domain of the encoded protein. The deletion also introduces a reading frame shift. RT-PCR with primer pairs specific for the wild-type mRNA detected the transcript in MEFs and in multiple tissues, at the highest levels in heart, kidney and testis, of wild-type mice, but no expression in any tissue analyzed from homozygous mutant mice. This was confirmed for the protein in heart, lung and testis by western blot analysis. (J:226676)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

7 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Scube2 Mutation:	41 strains or lines available

Original:	J:226676 Lin YC, et al., Disruption of Scube2 Impairs Endochondral Bone Formation. J Bone Miner Res. 2015 Jul;30(7):1255-67
All:	1 reference(s)