Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- No Viability Data
The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
increased circulating alanine transaminase level | Mdn1tm1a(KOMP)Wtsi | HET | Early adult | 2.61×10-13 | ||
increased circulating aspartate transaminase level | Mdn1tm1a(KOMP)Wtsi | HET | Early adult | 1.03×10-10 | ||
increased lactate dehydrogenase level | Mdn1tm1a(KOMP)Wtsi | HET | Early adult | 7.93×10-23 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Adrenal gland | N/A | heterozygote | 0.0% (0 of 2) |
Aorta | N/A | heterozygote | Not available |
Blood vessel | N/A | heterozygote | 0.0% (0 of 2) |
Bone | N/A | heterozygote | 0.0% (0 of 2) |
Brain | N/A | heterozygote | 100% (2 of 2) |
Brainstem | N/A | heterozygote | Not available |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cartilage tissue | N/A | heterozygote | 100% (2 of 2) |
Cerebellum | N/A | heterozygote | Not available |
Cerebral cortex | N/A | heterozygote | Not available |
Eye | N/A | heterozygote | 0.0% (0 of 2) |
Gall bladder | N/A | heterozygote | 0.0% (0 of 2) |
Heart | N/A | heterozygote | 0.0% (0 of 2) |
Hippocampus | N/A | heterozygote | Not available |
Hypothalamus | N/A | heterozygote | Not available |
Kidney | N/A | heterozygote | 100% (2 of 2) |
Large intestine | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Lower urinary tract | N/A | heterozygote | 0.0% (0 of 2) |
Lung | N/A | heterozygote | 0.0% (0 of 2) |
Lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
Esophagus | N/A | heterozygote | 0.0% (0 of 2) |
Olfactory lobe | N/A | heterozygote | Not available |
Ovary | N/A | heterozygote | 50% (1 of 2) |
Oviduct | N/A | heterozygote | 0.0% (0 of 2) |
Pancreas | N/A | heterozygote | 0.0% (0 of 2) |
Parathyroid gland | N/A | heterozygote | 100% (2 of 2) |
Peripheral nervous system | N/A | heterozygote | 100% (2 of 2) |
Peyer's patch | N/A | heterozygote | 0.0% (0 of 2) |
Pituitary gland | N/A | heterozygote | 0.0% (0 of 2) |
Prostate gland | N/A | heterozygote | 0.0% (0 of 2) |
Skeletal muscle tissue | N/A | heterozygote | 100% (2 of 2) |
Skin | N/A | heterozygote | 0.0% (0 of 2) |
Small intestine | N/A | heterozygote | 0.0% (0 of 2) |
Spinal cord | N/A | heterozygote | 100% (2 of 2) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Stomach | N/A | heterozygote | 0.0% (0 of 2) |
Striatum | N/A | heterozygote | Not available |
Testis | N/A | heterozygote | 50% (1 of 2) |
Thymus | N/A | heterozygote | 0.0% (0 of 2) |
Thyroid gland | N/A | heterozygote | 100% (2 of 2) |
Trachea | N/A | heterozygote | 100% (2 of 2) |
Uterus | N/A | heterozygote | 50% (1 of 2) |
White adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|---|
adrenal gland | 0.0% |
aorta | 0.0% |
blood vessel | |
bone | 0.0% |
brain | 0.0% |
brainstem | 0.0% |
brown adipose tissue | 0.0% |
cartilage tissue | 0.0% |
cerebellum | 0.0% |
cerebral cortex | 0.0% |
eye | 0.0% |
gall bladder | 0.0% |
heart | 0.0% |
hippocampus | 0.0% |
hypothalamus | 0.0% |
kidney | 0.0% |
large intestine | 0.0% |
liver | 0.0% |
lower urinary tract | 0.0% |
lung | 0.0% |
lymph node | 0.0% |
mammary gland | 0.0% |
oesophagus | |
olfactory lobe | 0.0% |
ovary | 0.0% |
oviduct | 0.0% |
pancreas | 0.0% |
parathyroid gland | 0.0% |
peripheral nervous system | 0.0% |
peyer's patch | |
pituitary gland | 0.0% |
prostate gland | 0.0% |
skeletal muscle tissue | |
skin | 0.0% |
small intestine | 0.0% |
spinal cord | 0.0% |
spleen | 0.0% |
stomach | 0.0% |
striatum | 0.0% |
testis | 0.0% |
thymus | 0.0% |
thyroid gland | 0.0% |
trachea | 0.0% |
uterus | 0.0% |
white adipose tissue | 0.0% |
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 predicted to be associated to Mdn1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Cramps, Familial Adolescent | Elevated circulating creatine kinase concentration | OMIM:218050 | |
Muscle Cramps, Familial | Elevated circulating creatine kinase concentration | OMIM:158400 | |
Pentosuria | Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level | ORPHA:2843 | |
Proximal Myopathy With Focal Depletion Of Mitochondria | Elevated circulating creatine kinase concentration | OMIM:600706 | |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase | Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration | ORPHA:206599 | |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates | Elevated circulating creatine kinase concentration | ORPHA:88635 | |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans | Elevated circulating creatine kinase concentration | OMIM:160570 | |
Erythrocyte Lactate Transporter Defect | Elevated circulating creatine kinase concentration | OMIM:245340 |
The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mdn1.
There are 2 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. | Nature communications (August 2019) | Mdn1tm1a(KOMP)Wtsi | PMC6671969 |
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. | PLoS biology (April 2019) | Mdn1tm1a(KOMP)Wtsi | PMC6459510 |
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
MGI Allele | Allele Type | Produced |
---|---|---|
Mdn1tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Mdn1tm300173(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Mdn1tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
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