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Bmp5se
Spontaneous Allele Detail
Summary
Symbol: Bmp5se
Name: bone morphogenetic protein 5; short ear
MGI ID: MGI:1856150
Synonyms: seGnJ
Gene: Bmp5  Location: Chr9:75682646-75807592 bp, + strand  Genetic Position: Chr9, 42.34 cM
Alliance: Bmp5se page
control and Bmp5se/Bmp5se

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  mice from Abbie Lathrop mouse farm
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe C to T substitution creates a stop codon at arginine codon 208 (p.R208*). The resulting truncated protein does not include the carboxy terminal signaling portion of the molecule. (J:21484)
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 Mice Carrying this Mutation: 50 assay results
In Structures Affected by this Mutation: 38 anatomical structures
Tumor Data
List all tumor models in MMHCdb carrying Bmp5se
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 72 strains available      Cell Lines: 0 lines available
Carrying any Bmp5 Mutation:  105 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Ear, Patella, Short Stature Syndrome (Meier-Gorlin Syndrome) in homozygous mice (J:24474)
References
Original:  J:14849 Lynch CJ, Short ears, an autosomal mutation in the house mouse. Am Naturalist. 1921;55:421-426
All:  29 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
11/22/2022
MGI 6.22
The Jackson Laboratory