Dmd | dystrophin, muscular dystrophy
Physiological systems
20 / 24 physiological systems tested
6 Significantly impacted by the knock-out
Homeostasis/metabolism Adipose tissue Growth/size/body region Hematopoietic system Behavior/neurological Skeleton
14 No significant impact
4 Not tested
Data collections
Gene metrics:14Significant phenotypes
8Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| increased lean body mass | 2 supporting datasets | Dmdem1(IMPC)Hmgu | homozygote | Early adult | 6.88x10-15 | ||
| increased circulating alkaline phosphatase level | 1 supporting dataset | Dmdem1(IMPC)Hmgu | homozygote | Early adult | 3.95x10-5 | ||
| increased circulating aspartate transaminase level | 1 supporting dataset | Dmdem1(IMPC)Hmgu | homozygote | Early adult | 0 | ||
| decreased bone mineral content | 2 supporting datasets | Dmdem1(IMPC)Hmgu | homozygote | Early adult | 3.13x10-14 | ||
| increased circulating aspartate transaminase level | 1 supporting dataset | Dmdem1(IMPC)Hmgu | hemizygote | Early adult | 1.88x10-56 | ||
| decreased total body fat amount | 2 supporting datasets | Dmdem1(IMPC)Hmgu | hemizygote | Early adult | 5.88x10-6 | ||
| increased circulating total protein level | 1 supporting dataset | Dmdem1(IMPC)Hmgu | homozygote | Early adult | 8x10-7 | ||
| increased lean body mass | 2 supporting datasets | Dmdem1(IMPC)Hmgu | hemizygote | Early adult | 3.25x10-6 | ||
| thrombocytosis | 1 supporting dataset | Dmdem1(IMPC)Hmgu | homozygote | Early adult | 7.68x10-10 | ||
| increased circulating serum albumin level | 1 supporting dataset | Dmdem1(IMPC)Hmgu | homozygote | Early adult | 2.35x10-6 |
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Human diseases caused by Dmd mutations
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.
External links
No external links available for Dmd.
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| Dmdem1(IMPC)Hmgu | Exon Deletion | | mouse |
| Dmdtm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | | ES Cell |
| Dmdtm82520(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |