Gdf5^bp
Spontaneous Allele Detail

Summary

• Symbol: Gdf5^bp
• Name: growth differentiation factor 5; brachypodism
• MGI ID: MGI:1855972
• Gene: Gdf5 Location: Chr2:155782943-155787204 bp, - strand Genetic Position: Chr2, 77.26 cM
• Alliance: Gdf5^bp page

Mutation origin

• Strain of Origin: Swiss albino stock

Mutation description

• Allele Type: Spontaneous
• Mutations: Intragenic deletion, Inversion
• Mutation details: This mutation involves deletion of some bases, and inversion of others, in the coding sequence. Specifically, bases 477-483 of the wild-type ORF are deleted, followed by an inversion of bases 484-496. The resulting frameshift creates a translational stop codon 62 amino acids later. (J:17582)
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Gdf5^bp/Gdf5^bp	Swiss albino stock

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
growth/size/body	√
disproportionate dwarf	√
limbs/digits/tail	√
brachypodia	√
abnormal limb bone morphology	√
abnormal phalanx morphology	√
brachyphalangia	√
short humerus	√
short ulna	√
short femur	√
short tibia	√
abnormal metacarpal bone morphology	√
abnormal metatarsal bone morphology	√
skeleton	√
abnormal limb bone morphology	√
abnormal long bone morphology	√
abnormal phalanx morphology	√
abnormal metacarpal bone morphology	√
abnormal metatarsal bone morphology	√
decreased length of long bones	√
brachyphalangia	√
short humerus	√
short ulna	√
short femur	√
short tibia	√

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

Expression

In Mice Carrying this Mutation:	5 assay results
In Structures Affected by this Mutation:	10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Gdf5 Mutation: 32 strains or lines available

References

• Original: J:19596 Landauer W, Brachypodism - A recessive mutation of house-mice. J Hered. 1952;43(6):293-8
• All: 8 reference(s)