- abnormal autopod morphology / IMPC
- abnormal gait / IMPC
- decreased exploration in new environment / IMPC
- abnormal digit morphology / IMPC
- decreased grip strength / IMPC
- abnormal bone structure / IMPC
- increased bone mineral density / IMPC
- abnormal forelimb morphology / IMPC
- decreased lymphocyte cell number / IMPC
- decreased leukocyte cell number / IMPC
- abnormal hindlimb morphology / IMPC
- decreased locomotor activity / IMPC
- decreased vertical activity / IMPC
- limb grasping / IMPC
CD1.A-Gdf5bp-J/Orl
| Status | Available to order |
| EMMA ID | EM:05990 |
| Citation information | RRID:IMSR_EM:05990 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | CD1.A-Gdf5bp-J/Orl |
| Alternative name | Gdf5bp-J |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Gdf5bp-J |
| Gene/Transgene symbol | Gdf5 |
Information from provider
| Provider | Przemko Tylzanowski |
| Provider affiliation | Development Growth and Regeneration, University of Leuven |
| Genetic information | The mutation is caused by the insertion of a guanine residue into a stretch of three guanine residues in the gene sequence (position 1444-1448), producing a stop codon 41 amino acids later. |
| Phenotypic information | The long bones of the limbs of mutant mice are slightly shorter than controls, and the fibula is shortened proximally. The bones of the axial skeleton are unaffected. |
| Breeding history | 14 backcrosses to CD1. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | heterozygous CD-1 outbred stock (syn.: outbr. CD-1 or CD1, Swiss CD-1 or CD1, ICR(CD-1), etc.) males, wild-type CD-1 outbred stock (syn.: outbr. CD-1 or CD1, Swiss CD-1 or CD1, ICR(CD-1), etc.) females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Acromesomelic dysplasia, Hunter-Thompson type / Orphanet_968
- Brachydactyly type C / Orphanet_93384
- Brachydactyly type A1 / Orphanet_93388
- Angel-shaped phalango-epiphyseal dysplasia / Orphanet_63442
- Fibular aplasia-complex brachydactyly syndrome / Orphanet_2639
- Acromesomelic dysplasia, Grebe type / Orphanet_2098
- Multiple synostoses syndrome / Orphanet_3237
- Proximal symphalangism / Orphanet_3250
- Brachydactyly type A2 / Orphanet_93396
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- delayed bone ossification / MGI
- abnormal long bone epiphysis morphology / MGI
- abnormal cartilage morphology / MGI
- abnormal cartilage development / MGI
- decreased chondrocyte number / MGI
- short limbs / MGI
- abnormal carpal bone morphology / MGI
- abnormal tibia morphology / MGI
- abnormal femur morphology / MGI
- abnormal autopod morphology / MGI
- decreased body weight / MGI
- reduced male fertility / MGI
- decreased litter size / MGI
- abnormal limb morphology / MGI
- abnormal digit morphology / MGI
- abnormal limb bone morphology / MGI
- abnormal fibula morphology / MGI
- disproportionate dwarf / MGI
- brachyphalangia / MGI
- brachydactyly / MGI
- short tibia / MGI
- short fibula / MGI
- brachypodia / MGI
- abnormal long bone epiphyseal plate morphology / MGI
- abnormal metatarsal bone morphology / MGI
- abnormal metacarpal bone morphology / MGI
- short femur / MGI
- fused joints / MGI
- delayed endochondral bone ossification / MGI
- abnormal long bone morphology / MGI
- short humerus / MGI
- short radius / MGI
- short ulna / MGI
- short metacarpal bones / MGI
- short metatarsal bones / MGI
- decreased length of long bones / MGI
- abnormal tarsal bone morphology / MGI
- abnormal phalanx morphology / MGI
- abnormal patella morphology / MGI
- abnormal limb development / MGI
- abnormal digit development / MGI
- abnormal articular cartilage morphology / MGI
- abnormal endochondral bone ossification / MGI
- fused phalanges / MGI
- micromelia / MGI
- fused carpal bones / MGI
- decreased birth weight / MGI
- abnormal limb long bone morphology / MGI
- joint dislocation / MGI
Literature references
- GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes.;Daans Melina, Luyten Frank P, Lories Rik J U, ;2011;Annals of the rheumatic diseases;70;208-13; 20805298
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