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Gene: Dytn MGI:2685061

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Gene Summary

Name:
dystrotelin
Synonyms:
LOC241073

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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 leukocyte cell number Dytnem1(IMPC)J HOM Early adult 9.31×10-14
decreased bone mineral content Dytnem1(IMPC)J HOM Early adult 2.25×10-07
decreased circulating phosphate level Dytnem1(IMPC)J HOM   Early adult 1.74×10-05
decreased heart weight Dytnem1(IMPC)J HOM Early adult 2.94×10-06
increased exploration in new environment Dytnem1(IMPC)J HOM Early adult 1.33×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Dytn 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dytn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Hypophosphatemia OMIM:612287
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Hypophosphatemia OMIM:612286
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Dent Disease 2
Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia OMIM:300555
Linear Verrucous Nevus Syndrome
Mental deterioration, Reduced bone mineral density, Hypophosphatemia ORPHA:2611
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia ORPHA:99879
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnormal bone structure, Coa... ORPHA:93160
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,... OMIM:600081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabeculae,... OMIM:264700
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... ORPHA:157215
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Delayed epiphyseal ossification, Rickets, Sparse bone... OMIM:241530
Autoimmune Hypoparathyroidism
Increased bone mineral density, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalce... ORPHA:36913
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bo... ORPHA:289157
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabeculae,... OMIM:277440
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... OMIM:300554
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Fanconi Renotubular Syndrome 1
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia OMIM:134600
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Colchicine Poisoning
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... ORPHA:31824
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Osteomalacia, Hypophosphatemia OMIM:613388
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypercalcemia, Hypermagnesemia, Depression, Hypophosphatemia OMIM:600740
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Rickets, Hypophosphatemia, Hypophosphat... OMIM:307800
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Cystinosis
Hypokalemia, Rickets, Hypophosphatemia ORPHA:213
Dent Disease 1
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... OMIM:300009
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... OMIM:619743
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Hypophosphatemia OMIM:616026
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia ORPHA:79445
Fanconi-Bickel Syndrome
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased ... OMIM:227810
Fibrous Dysplasia Of Bone
Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Rickets, Osteolysi... ORPHA:249
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocalcemic tetany OMIM:612462
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Hypocalcemia, Hypophosphatemia ORPHA:352540
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Depression, Irritability, Hyper... ORPHA:94089
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypercalcemia, Hypophosphatemia OMIM:156400
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Fanconi-Bickel Syndrome
Osteopenia, Hypertriglyceridemia, Rickets, Hypophosphatemia ORPHA:2088
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Subcutaneous ossification, Hyperphosphatemia, Cognitive impairment, Hypocalcemic te... OMIM:103580
Mccune-Albright Syndrome
Pancytopenia, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneury... ORPHA:562
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Hypokalemia, Cognitive impairment, Hypophosphatemia ORPHA:411629
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia OMIM:211900
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Pearson Syndrome
Reticulocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Neutropenia, Abnormal heart morpho... ORPHA:699
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Reduced bone mineral density... ORPHA:667
Autosomal Dominant Hypocalcemia
Depression, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotio... ORPHA:428
Dent Disease
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Delayed... ORPHA:1652
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Rickets, Tooth abscess, Reduced bone mineral densit... ORPHA:89936
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating ... ORPHA:3337
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Confusion, Depression, Irritability, Hyperphosphatemi... ORPHA:79444
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures ORPHA:405
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Cystinosis, Nephropathic
Hyponatremia, Progressive neurologic deterioration, Splenomegaly, Rickets, Reduced blood urea nit... OMIM:219800
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Hydroxyprolinemia, Osteoporosis, Hyperphosphatemia, H... OMIM:239000
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia OMIM:259775
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Confusion, Depression, Reduced bone mineral density, ... ORPHA:79443
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Osteomalacia, Depression, Anemia, Hypokalemia, Attention deficit hyp... ORPHA:534
Opsismodysplasia
Hypophosphatemia OMIM:258480
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Congenital Enterovirus Infection
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia... ORPHA:292
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decre... ORPHA:93325
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:143
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond... ORPHA:423
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Epiphyseal stippling, Hyperphosphatemia, Neonatal epiphyseal stippling OMIM:101800
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Hemorrhagic Fever-Renal Syndrome
Confusion, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr... ORPHA:340
Exercise-Induced Malignant Hyperthermia
Confusion, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, H... ORPHA:466650

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dytn

IMPC related publications

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 Dytn.

No publications found that use IMPC mice or data for Dytn.

Order Mouse and ES Cells

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
Dytntm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dytntm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dytnem1(IMPC)J Exon Deletion Mice

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