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Bmp5se
Spontaneous Allele Detail
Nomenclature
Symbol: Bmp5se
Name: bone morphogenetic protein 5; short ear
MGI ID: MGI:1856150
Synonyms: seGnJ
Gene: Bmp5  Location: Chr9:75775364-75900310 bp, + strand  Genetic Position: Chr9, 42.34 cM
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
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:  99 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
04/13/2021
MGI 6.16
The Jackson Laboratory