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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: Chr9:75623171-75748117 bp, + strand    Genetic Position: Chr9, 42.0 cM
control and Bmp5se/Bmp5se

Show the 1 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
  The C to T transition creates a stop codon at amino acid 208. The resulting truncated protein does not include the carboxy terminal signaling portion of the molecule. (J:21484)
Inheritance: Recessive
Find Mice (IMSR) Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation: Mouse Strains: 53 strains available      Cell Lines: 0 lines available
Carrying any Bmp5 Mutation: 66 strains or lines available
Expression
In Mice Carrying this Mutation: 38 assay results
Phenotype
summary
help icon
Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

      Key:  
hm homozygous ht heterozygous
cn conditional genotype  cx complex: > 1 genome feature
tg involves transgenes ot other: hemizygous, indeterminate,...
N normal phenotype expected model not found
Affected SystemsGenotypes:
 
hm1
 
hm2
 
hm3
 
hm4
 
hm5
 
hm6
 
hm7
 
hm8
 
hm9
 
hm10
 
ht11
 
cx12
  
cardiovascular system          		      √√√   
  
craniofacial          		√√√√√√      
  
embryogenesis          		       √    
  
endocrine/exocrine glands          		       √    
  
growth/size          		√ √        √
  
hearing/vestibular/ear          		√ √√√√      
  
immune system          		       √√   
  
limbs/digits/tail          		√√     √  √ 
  
liver/biliary system          		√      √√   
  
renal/urinary system          		√     √√    
  
reproductive system          		       √   √
  
respiratory system          		√√     √√   
  
skeleton          		√√√√ √ √√√√√
 
  
Disease Models          		√√√√ √√√√√  
Phenotypic
data by
genotype
Phenotypic Data by Genotype

(show or hide all phenotypic details)

GenotypeAllelic CompositionGenetic Background
  
 hm1   Disease Model  		 Bmp5se/Bmp5se Ab/Gn
  
 hm2   Disease Model  		 Bmp5se/Bmp5se C/Gn
  
 hm3   Disease Model  		 Bmp5se/Bmp5se involves: C3H * P
  
 hm4   Disease Model  		 Bmp5se/Bmp5se NB
  
 hm5   		 Bmp5se/Bmp5se Not Specified
  
 hm6   Disease Model  		 Bmp5se/Bmp5se P/J
  
 hm7   Disease Model  		 Bmp5se/Bmp5se SEA/Gn
  
 hm8   Disease Model  		 Bmp5se/Bmp5se SEAC/Gn
  
 hm9   Disease Model  		 Bmp5se/Bmp5se SEC/1Gn
  
 hm10   Disease Model  		 Bmp5se/Bmp5se SEC/Gn
  
 ht11   		 Bmp5se/Bmp5+ SEAC/Gn
  
 cx12   		 Bmp5se/Bmp5se
Bmp6tm1Rob/Bmp6tm1Rob		 involves: 129S/SvEv
Disease
models
Mouse Models
of Human Disease
NoteGenotypeRef(s)
 
Allelic Composition
Genetic Background
Models with phenotypic similarity to human diseases with unknown etiology.
Ear, Patella, Short Stature Syndrome
OMIM ID: 224690		  
 
hm4		Bmp5se/Bmp5seNBJ:24474
 
 
hm7		Bmp5se/Bmp5seSEA/GnJ:24474
 
 
hm10		Bmp5se/Bmp5seSEC/GnJ:24474
 
 
hm1		Bmp5se/Bmp5seAb/GnJ:24474
 
 
hm9		Bmp5se/Bmp5seSEC/1GnJ:24474
 
 
hm2		Bmp5se/Bmp5seC/GnJ:24474
 
 
hm8		Bmp5se/Bmp5seSEAC/GnJ:24474
 
 
hm3		Bmp5se/Bmp5seinvolves: C3H * PJ:24474
 
 
hm6		Bmp5se/Bmp5seP/JJ:24474
References
Original: J:14849 Lynch CJ, "Short ears, an autosomal mutation in the house mouse" Am Naturalist 1921;55():421-426
All: 16 reference(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/20/2009
MGI_4.31
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