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Adamtsl2stb
Spontaneous Allele Detail
Summary
Symbol: Adamtsl2stb
Name: ADAMTS-like 2; stubby
MGI ID: MGI:1857056
Gene: Adamtsl2  Location: Chr2:26969391-26998993 bp, + strand  Genetic Position: Chr2, Syntenic
Alliance: Adamtsl2stb page
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Spontaneous (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsThe molecular lesion is a nonsense mutation comprised of a G to A substitution (c.2241G>A) in exon 15 of the gene. The nonsense mutation introduces a premature termination codon within the tryptophan codon at amino acid residue position 747 (p.W747*) within the encoded fifth thrombospondin type 1 motif. (J:345919)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structure(s)
Find Mice (IMSR)
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 Adamtsl2 Mutation:  33 strains or lines available
References
Original:  J:64250 Lane PW, stb - stubby. Mouse News Lett. 1965;32:46
All:  5 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