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Scube3m1Mhda
Chemically induced Allele Detail
Summary
Symbol: Scube3m1Mhda
Name: signal peptide, CUB domain, EGF-like 3; mutation 1, Martin Hrabe de Angelis
MGI ID: MGI:5817460
Synonyms: KTA041, Scube3Mhdakta041, Scube3N294K, Scube3N294KMhda
Gene: Scube3  Location: Chr17:28361115-28393828 bp, + strand  Genetic Position: Chr17, 14.63 cM
Alliance: Scube3m1Mhda page
Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation details A C-to-A transversion at nucleotide position 882 in exon 8 leads to an asparagine to lysine exchange at protein position 294 (N294K). (J:237904)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 23 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Scube3 Mutation:  47 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Paget disease of the bone 1 J: 237904.
References
Original:  J:82809 European Mouse Mutant Archive, Information obtained from the European Mouse Mutant Archive (EMMA). Unpublished. 2003-2013;
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory