This allele was identified by a complementation test. Sequencing revealed a correctly spliced transcript with a G-to-A substitution at base 932 of the Bmp5 coding region. The G-to-A mutation changes the first arginine in the RXXR processing site to a glutamine. (J:136831)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J-Otop1tlt
Spontaneous
Nucleotide substitutions
Recessive
1
--
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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