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Allele : Bmp5<se> bone morphogenetic protein 5; short ear

Primary Identifier  MGI:1856150 Allele Type  Spontaneous
Gene  Bmp5 Inheritance Mode  Recessive
Strain of Origin  mice from Abbie Lathrop mouse farm Is Recombinase  false
Is Wild Type  false
description  Phenotypic Similarity to Human Syndrome: Ear, Patella, Short Stature Syndrome (Meier-Gorlin Syndrome) in homozygous mice (J:24474)
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • se<GnJ>,
  • se<GnJ>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

39 Carried By

0 Driven By

34 Publication categories