Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | Notes | References

Symbol:	Bmp5se-38DSD
Name:	bone morphogenetic protein 5; short ear, 38DSD
MGI ID:	MGI:1930367
Gene:	Bmp5  Location: Chr9:75682646-75807592 bp, + strand  Genetic Position: Chr9, 42.34 cM
Alliance:	Bmp5se-38DSD page

Strain of Origin:

(C3H/Rl x 101/Rl)F1

Allele Type:    Radiation induced Mutations:    Deletion, Duplication, Inversion   Mutation details: Evidence of DNA rearrangement at this locus as noted by altered restriction fragment polymorphisms. The Bmp5 open reading frame could not be amplified from strain 38DSD. 38DSD is a 30.7 Mb inversion with breakpoints in intron 6 of Bmp5 and intron 1 of Tmprss4. The Bmp5 breakpoint is between chr9:75,896,515-75,896,518 (4 bp duplicated). The Tmprss4 breakpoint is between chr9:45,190,204-45,190,206 (1 bp deletion). (J:3046, J:39620) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Bmp5 Mutation:	116 strains or lines available

Original:	J:3046 Kingsley DM, et al., The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily. Cell. 1992 Oct 30;71(3):399-410
All:	2 reference(s)