Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Ddhd2 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Autosomal Recessive Spastic Paraplegia Type 54 | Tip-toe gait, Gait disturbance, Spastic gait | ORPHA:320380 | |
Spastic Paraplegia 54, Autosomal Recessive | OMIM:615033 |
The table below shows human diseases predicted to be associated to Ddhd2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments | Short attention span, Motor neuron atrophy, Frontotemporal dementia, Bradykinesia, Dementia, Fall... | ORPHA:412066 | |
Ataxia With Vitamin E Deficiency | Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, ... | OMIM:277460 | |
Autosomal Recessive Spastic Paraplegia Type 54 | Tip-toe gait, Gait disturbance, Spastic gait | ORPHA:320380 | |
Spastic Paraplegia 54, Autosomal Recessive | OMIM:615033 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ddhd2tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Ddhd2tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
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