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Gene: Myo1d MGI:107728

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Gene Summary

Name:
myosin ID
Synonyms:
9930104H07Rik,  D11Ertd9e

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
decreased startle reflex Myo1dem1(IMPC)J HOM   Early adult 5.00×10-06
decreased bone mineral density Myo1dem1(IMPC)J HOM Early adult 3.08×10-08
abnormal auditory brainstem response Myo1dem1(IMPC)J HOM   Early adult 7.49×10-12

Download data as:  TSV  XLS

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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 Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Myo1d 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 Myo1d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... OMIM:601068
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative ... OMIM:617638
Pseudomyxoma Peritonei
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Weight... ORPHA:26790
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Immunodeficiency 37
Infectious encephalitis, Colitis OMIM:616098
Immunodeficiency, Common Variable, 11
Crohn's disease, Failure to thrive, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Esophagitis, Eosinophilic, 1
Vomiting, Failure to thrive, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Failure to thrive, Esophagitis, Dysphagia OMIM:613412
Diarrhea 6
Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism OMIM:614616
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Inflammation of the large intestine, Acne, Erythema nodosum, Recurrent skin infecti... OMIM:300635
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, Skin rash, Inflammation of the large intestine, Failure to... OMIM:618108
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re... OMIM:613960
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Immunodeficiency 70
Furuncle, Recurrent sinusitis, Celiac disease, Achalasia, Colitis OMIM:618969
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Sterile arthritis, Cystic acne, Acne, Colitis OMIM:604416
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, ... OMIM:619281
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Failure to thriv... OMIM:614602
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Sensorineural hearing impairme... OMIM:241520
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Crohn's disease, Bronchiectasis, Ulcerative colitis, Colitis OMIM:618394
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess... ORPHA:411696
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Skin rash, Enterocolitis, Failure to thrive, Secretory diarrhea, Feeding diffi... OMIM:616050
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Failure to thri... OMIM:209920
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Memb... OMIM:618999
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Ulcerative colitis, Enterocolitis OMIM:614878
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Anoperineal fistula, Diarrhea, Chronic gastritis, Skin rash, Abdominal pain, Ar... OMIM:301074
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Colitis OMIM:613101
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Claw hand deformity, Sensorineural hearing impairment, Abnor... OMIM:601455
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic diarrhea, Chr... OMIM:618131
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac... OMIM:616433
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Abdominal pain, Necrotizing enterocolitis, High palate, Vomiting, Feeding difficulties OMIM:616809
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Villous atrophy, Chronic diarrhea, Thyroiditis, Colitis, Arthr... OMIM:614700
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Joint contracture, Exa... OMIM:616881
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Intestinal atresia, Bloody diarrhea, Intestinal malrotatio... OMIM:243150
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Stomatitis, Chronic diarrhea, Skin rash, Chronic mucocutaneous candidia... ORPHA:911
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Diarrhea, Crohn's disease, Optic neuritis, Thyroiditis, Atopic dermatitis, Eczematoid dermatitis,... ORPHA:436159
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Weight loss, Ga... ORPHA:67
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Failure to thrive OMIM:301108
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Arthritis, Skin rash, Palmoplantar pustulosis, Poor appetite, Inflammation of the large intestine... ORPHA:324964
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... OMIM:106300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Abnormal intestine morphology, Psoriasiform dermatitis, Dependency on intravenous nutri... ORPHA:37042
Shigellosis
Anorexia, Myocarditis, Acute colitis, Abdominal pain, Arthritis, Intestinal perforation, Bloody d... ORPHA:810
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic diarrhea, Chronic mucocutaneous candidiasis, Eczematoid dermatiti... ORPHA:98813
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Failure to thrive in infancy, Colitis OMIM:301220
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis ORPHA:48104
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Abdominal pain, Fulminant h... ORPHA:2137
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia OMIM:620133
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Pancreatitis, Recurrent pancreatitis OMIM:615947
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Cyclic Neutropenia
Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Enterocolitis, Otitis media, Peritoni... ORPHA:2686
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid de... OMIM:618935
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Immunodeficiency 97 With Autoinflammation
Recurrent otitis media, Diarrhea, Abdominal pain, Eczematoid dermatitis, Enterocolitis, Recurrent... OMIM:619802
Arthrogryposis, Distal, Type 2A
Flexion contracture of toe, Shoulder flexion contracture, Elbow flexion contracture, Abnormal aud... OMIM:193700
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, W... ORPHA:309031
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Sapho Syndrome
Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Synovitis, Palmoplantar pust... ORPHA:793
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Flexion contracture, Exaggerated startle response OMIM:609541
Hermansky-Pudlak Syndrome 1
Abdominal pain, Colitis, Hematochezia, Inflammation of the large intestine OMIM:203300
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Multiple joint contractures, Optic disc pallor, Exaggerated startle response ORPHA:320406
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Bloody diarrhea, Blepharitis, Inflammation of the large intestine, Recurrent pneumonia... OMIM:617718
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Exaggerated startle response OMIM:618201
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Tremor, Abnormal auditory evoked poten... ORPHA:99027
Iga Pemphigus
Neutrophilic infiltration of the skin, Pustule, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, Bowel irritability, Anorexia, Intractable diarrhea, A... OMIM:619381
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Intestinal perforation, B... ORPHA:90038
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Reactive Arthritis
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Pericarditis, Pustule, Inflam... ORPHA:29207
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Maculopapular exanthe... ORPHA:540
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Esophageal varix, Failure to thrive, Inflammation of the large intestine OMIM:614576
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Anoperineal fistula, Pancolitis, Bloody diarrhea, Eosinophilic infiltration of ... OMIM:618213
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Sandifer Syndrome
Hematemesis, Episodic vomiting, Gastroesophageal reflux, Esophagitis, Feeding difficulties, Hiatu... ORPHA:71272
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Diarrhea, Functional abnormality of the gastroint... ORPHA:90051
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Thymoma
Myositis, Rheumatoid arthritis, Weight loss, Neoplasm of the gastrointestinal tract, Ulcerative c... ORPHA:99867
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Exaggerated startle response, Macrotia, Joint contracture, EEG with gener... OMIM:617864
Cerebrotendinous Xanthomatosis
Osteopenia, Optic atrophy, Decreased nerve conduction velocity, Resting tremor, Abnormal auditory... ORPHA:909
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Chronic diarrhea, Abdominal pain, Lymphadenitis, Eczematoid dermatitis, Inflammation of the large... OMIM:615895
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Elbow flexion contracture, Low-set ears, Exaggerated startle response, Hip contrac... OMIM:617301
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Abnormality of the anus, Esophagitis, Inflammation of the large intesti... ORPHA:2908
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Limb joint contracture, Exaggerated startle response OMIM:620327
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... OMIM:609136
Idiopathic Hypereosinophilic Syndrome
Abdominal distention, Pancreatitis, Cholangitis, Chronic diarrhea, Abdominal pain, Arthritis, Ecz... ORPHA:3260
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Tremor, Absent brainstem auditory responses, Hearing impai... ORPHA:90321
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Gastrointestinal infarctions, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea,... ORPHA:544482
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Thyroiditis, Chronic mucocutaneous candidiasis, Abnormal intestine morphology, Eczemato... ORPHA:391487
Sweet Syndrome
Panniculitis, Myositis, Predominantly dermal neutrophilic infiltrate, Inflammation of the large i... ORPHA:3243
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Pancreatitis, Periodontitis, Diarrhea, Thyroiditis, Hepatocellular carcin... ORPHA:79259
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Bronchiectasis, Intestinal ... OMIM:619708
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Gastritis, Bloody diarrhea, Hepatoblastoma, Dependency on ... ORPHA:84064
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Plague
Hematemesis, Anorexia, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia... ORPHA:707
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Primary Sclerosing Cholangitis
Pancreatitis, Neoplasm of the gallbladder, Abnormal large intestine physiology, Abdominal pain, T... ORPHA:171
Cocaine Intoxication
Gastrointestinal infarctions, Abdominal pain, Intestinal perforation, Bloody diarrhea, Vomiting, ... ORPHA:90068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Inflammation of the large intestine, Interface hepatitis, Ulcerative coli... ORPHA:562639
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Hyperextensibility of the finge... ORPHA:521426
Fumarase Deficiency
Failure to thrive, Necrotizing enterocolitis, High palate, Hepatic failure OMIM:606812
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Campto... ORPHA:171929
Autoimmune Lymphoproliferative Syndrome
Gastritis, Recurrent aphthous stomatitis, Panniculitis, Neoplasm of the tongue, Thyroiditis, Hepa... ORPHA:3261
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Abdominal pain, Arthritis, Parotitis, Atopic dermatitis, Failure to thrive, Epididymiti... OMIM:620376
Tay-Sachs Disease
Limited elbow extension, Optic atrophy, Tremor, Limited knee extension, Exaggerated startle respo... ORPHA:845
Glycogen Storage Disease Ib
Pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Gout, Protuberant ab... OMIM:232220
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Immunodeficiency 87 And Autoimmunity
Villous atrophy, Necrotizing enterocolitis, Cleft palate, Secretory diarrhea, Feeding difficultie... OMIM:619573
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Chronic diarrhea, Arthritis, Eczematoid dermatitis, Sinusitis,... ORPHA:906
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Macrotia, EEG abnormality, Exaggerated startle response OMIM:617281
Glycogen Storage Disease Ic
Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the large intestine, ... OMIM:232240
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Wiskott-Aldrich Syndrome
Hematemesis, Recurrent otitis media, Melena, Diarrhea, Chronic diarrhea, Eczematoid dermatitis, I... OMIM:301000
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Asparagine Synthetase Deficiency
Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, Macrotia, Simple ea... OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormal pinna morphology, Dystonia, Exaggerated startle response ORPHA:438216
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Sarcoidosis, Susceptibility To, 1
Anorexia, Abnormal salivary gland morphology, Arthritis, Inflammation of the large intestine, Iri... OMIM:181000
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Ulcerative col... OMIM:617137
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Contractures... OMIM:617527
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Flexion contracture, Exaggerated startle response OMIM:253800
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypsarrhythmia, Dystonia, EEG with burst suppression, Exaggerated startle response OMIM:620423
Gm1 Gangliosidosis Type 1
Hearing impairment, Macrotia, Low-set ears, Exaggerated startle response ORPHA:79255
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Obesity, Osteomyelitis ORPHA:70591
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:620451
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99413
Turner Syndrome
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:881
Mosaic Monosomy X
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99226
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Aganglionic megacolon, Abnormality of the gastrointestinal tract... ORPHA:110
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Exaggerated startle response OMIM:618367
Mowat-Wilson Syndrome
Aganglionic megacolon, Recurrent otitis media, Cleft hard palate, Decreased body weight, Bowel in... ORPHA:2152
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Exaggerated startle response, Osteoporosis, Dystonia, Joint hypermobility, Optic disc... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Jo... OMIM:619522

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 Myo1d

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 Myo1d.

No publications found that use IMPC mice or data for Myo1d.

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
Myo1dtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Myo1dtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Myo1dtm15(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Myo1dtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Myo1dtm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Myo1dtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Myo1dem1(IMPC)J Exon Deletion Mice

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