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Dscam3J
Spontaneous Allele Detail
Nomenclature
Symbol: Dscam3J
Name: DS cell adhesion molecule; 3 Jackson
MGI ID: MGI:5488751
Synonyms: DSCAMR1018P, nm2122
Gene: Dscam  Location: Chr16:96590840-97170752 bp, - strand  Genetic Position: Chr16, 57.02 cM, cytoband C
Large dome shaped head, muscle stiffness and enlarged central and lateral ventricles in Dscam3J/Dscam3J mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C3SnSmn.Cg-Prkdcscid/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA spontaneous G-to-C point mutation (C-to-G on forward strand) results in the amino acid substitution of arginine with proline at position 1018 (p.R1018P). Western blot analysis confirmed normal protein expression levels. (J:195831)
Single nucleotide substitution of proline for arginine at position 1018 in the Dscam3J allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 10 anatomical structures
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 Dscam Mutation:  5 strains or lines available
References
Original:  J:195831 Schramm RD, et al., A novel mouse Dscam mutation inhibits localization and shedding of DSCAM. PLoS One. 2012;7(12):e52652
All:  2 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
04/06/2021
MGI 6.16
The Jackson Laboratory