Gdf5bp
Spontaneous Allele Detail
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Symbol: |
Gdf5bp |
Name: |
growth differentiation factor 5; brachypodism |
MGI ID: |
MGI:1855972 |
Gene: |
Gdf5 Location: Chr2:155782943-155787204 bp, - strand Genetic Position: Chr2, 77.26 cM
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Alliance: |
Gdf5bp page
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Strain of Origin: |
Swiss albino stock
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Allele Type: |
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Spontaneous |
Mutations: |
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Intragenic deletion, Inversion
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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)
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Inheritance: |
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Recessive |
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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 |
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Genotype/ Background: |
| Allelic Composition | Genetic Background | Cell Line(s) |
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Loading... | | | Swiss albino stock | |
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Phenotypes: |
Affected Systems |
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growth/size/body
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√
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disproportionate dwarf
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√
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limbs/digits/tail
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√
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brachypodia
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√
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abnormal limb bone morphology
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√
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abnormal phalanx morphology
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√
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brachyphalangia
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√
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short humerus
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√
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short ulna
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√
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short femur
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√
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short tibia
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√
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abnormal metacarpal bone morphology
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√
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abnormal metatarsal bone morphology
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√
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skeleton
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√
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abnormal limb bone morphology
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√
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abnormal long bone morphology
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√
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abnormal phalanx morphology
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√
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abnormal metacarpal bone morphology
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√
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abnormal metatarsal bone morphology
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√
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decreased length of long bones
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√
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brachyphalangia
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√
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short humerus
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√
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short ulna
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√
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short femur
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√
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short tibia
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√
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View phenotypes and curated references for all genotypes (concatenated display).
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Original: |
J:19596 Landauer W, Brachypodism - A recessive mutation of house-mice. J Hered. 1952;43(6):293-8 |
All: |
8 reference(s) |
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