Bmp5^se
Spontaneous Allele Detail

Summary

• Symbol: Bmp5^se
• Name: bone morphogenetic protein 5; short ear
• MGI ID: MGI:1856150
• Synonyms: se^GnJ
• Gene: Bmp5 Location: Chr9:75682646-75807592 bp, + strand Genetic Position: Chr9, 42.34 cM
• Alliance: Bmp5^se page

control and Bmp5^se/Bmp5^se

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 details: The 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

Disease models

Expression

In Mice Carrying this Mutation:	50 assay results
In Structures Affected by this Mutation:	34 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Bmp5^se

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: 116 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: 33 reference(s)