Gene Summary

Name:
myosin ID
Synonyms:
9930104H07Rik,  D11Ertd9e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 bone mineral density Myo1dem1(IMPC)J HOM Early adult 2.59×10-08
decreased startle reflex Myo1dem1(IMPC)J HOM   Early adult 5.69×10-06
abnormal auditory brainstem response Myo1dem1(IMPC)J HOM   Early adult 1.16×10-12

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Auditory Brain Stem Response

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

8 Images

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
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Enterocolitis
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss OMIM:191390
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Enterocutaneous fistula, Enterocolitis, Perianal abscess, Folli... OMIM:612567
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Weight loss, Recurrent aphthous stomatitis, Inflammation of the large intestine,... OMIM:266600
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverticula, Ulcerative colit... OMIM:223320
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema, Diarrhea OMIM:613960
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux OMIM:109350
Immunodeficiency, Common Variable, 11
Failure to thrive, Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Intestina... ORPHA:26790
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Esophagitis, Eosinophilic, 1
Esophagitis, Failure to thrive, Dysphagia, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Esophagitis, Failure to thrive, Dysphagia, Vomiting OMIM:613412
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent skin infections, Erythema nodosum, Colitis, Acne, Inflammation of the large intestine, ... OMIM:300635
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Immunodeficiency 57 With Autoinflammation
Gastritis, Bronchiectasis, Inflammation of the large intestine, Failure to thrive, Perianal absce... OMIM:618108
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Van Buchem Disease
Cranial hyperostosis, Increased bone mineral density, Thickened cortex of long bones, Optic atrop... OMIM:239100
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Weight loss, Constipation, Aganglionic megacolon, Abnormality of th... ORPHA:95427
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Arthritis, Colitis, Inflammation of the large intestine, Eczema, Failure to thrive, Dysphagia, Ch... OMIM:608809
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Anterior uveitis, Ileal ulcer, Skin rash OMIM:616744
Trichohepatoenteric Syndrome 2
Small for gestational age, Colitis, Failure to thrive, Hepatitis, Villous atrophy, Diarrhea OMIM:614602
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile arthritis, Colitis, Acne, Cystic acne, Arthritis OMIM:604416
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Colitis, Chronic diarrhea, Inflammation of the large intestine, Recurrent si... OMIM:619281
Immunodeficiency 70
Achalasia, Colitis, Recurrent sinusitis, Celiac disease, Furuncle OMIM:618969
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Ankle flexion contracture, Absen... OMIM:617519
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Sensorineural hearing impairment, Hypophosphate... OMIM:241520
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis, Ulcerative colitis OMIM:618394
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Protracted diarrhea, Infectious encephalitis, Colitis, Failure to t... OMIM:209920
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Nausea, Abnormal peristalsis, Vomiting, Gastroesophageal reflux,... ORPHA:411696
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Failure to thrive, Enterocolitis, Episodic vomiting, Villous atr... OMIM:616050
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Dystonia, Focal dystonia, Generalized dystonia, P... ORPHA:52368
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Colonic eosinophilia, Failure to thrive, Membranous nephropathy,... OMIM:618999
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Immunodeficiency 58
Recurrent pneumonia, Helicobacter pylori infection, Cutaneous abscess, Colitis, Chronic diarrhea,... OMIM:618131
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Inflammation of the large intestine OMIM:617718
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Interface hepatitis, Intestinal malrotation, Colonic atresia, Inte... OMIM:243150
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Colitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Recurrent... ORPHA:911
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent pneumonia, Recurrent otitis media, Uveitis, Pneumonia, Erythema nodosum, Arthritis, Col... OMIM:614700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss, Arthritis, Acne, Inflammation of the large intestine, Osteomyelitis, Psoriasiform de... ORPHA:324964
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Constrictive pericarditis, Weight loss, Gastrointestinal dysmotility, Protracted... ORPHA:67
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Sacroiliac arthritis, Inflammation of the large intestine, Oligoarthritis, Ps... OMIM:106300
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Bloody diarrhea, Pneumonia, Arthritis, ... ORPHA:810
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Membranous nephropathy, Hepatitis, Inflammatory abnormality of the ... ORPHA:37042
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Failure to thrive in infancy, Colitis, Chronic diarrhea, Bronchiectasis OMIM:301220
Pyoderma Gangrenosum
Rheumatoid arthritis, Myositis, Pustule, Inflammation of the large intestine ORPHA:48104
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Gastrointestinal hemorrhage, Glomerulonephritis, Inflamm... ORPHA:2137
Hyperlipoproteinemia, Type Id
Colitis, Failure to thrive, Recurrent pancreatitis, Pancreatitis OMIM:615947
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Craniosynostosis, Sensorineur... OMIM:201050
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Peritonitis, Periodontitis, Abdominal pain, Enterocolitis, ... ORPHA:2686
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczema, Anal fissure, Ul... OMIM:618935
Arthrogryposis, Distal, Type 2A
Recurrent fractures, Elbow flexion contracture, Knee flexion contracture, Abnormal auditory evoke... OMIM:193700
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Weight loss, Colitis, Abdominal pain, Abdominal distention, Ke... ORPHA:309031
Sapho Syndrome
Recurrent skin infections, Chronic diarrhea, Acne, Inflammation of the large intestine, Abdominal... ORPHA:793
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Hermansky-Pudlak Syndrome 1
Colitis, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:203300
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Head titubation ORPHA:3240
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Zygomycosis
Nausea, Gastrointestinal hemorrhage, Hepatitis, Hematemesis, Pancreatitis, Fasciitis, Diarrhea, A... ORPHA:73263
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Flexion contracture, Optic atrophy, Exaggerated startle response OMIM:609541
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Bloody diarrhea, Colonic stenosis, Peritonitis, Intussusception, Acute co... ORPHA:90038
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Iga Pemphigus
Neutrophilic infiltration of the skin, Ulcerative colitis, Pustule, Cutaneous abscess ORPHA:555905
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Optic disc pallor, Optic atrophy, Exaggerated startle response ORPHA:320406
Familial Hemophagocytic Lymphohistiocytosis
Colitis, Infectious encephalitis, Maculopapular exanthema, Decreased liver function, Erythroderma... ORPHA:540
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Exaggerated startle response OMIM:618201
Congenital Disorder Of Glycosylation, Type Iil
Esophageal varix, Failure to thrive, Chronic diarrhea, Inflammation of the large intestine OMIM:614576
Reactive Arthritis
Weight loss, Arthritis, Conjunctivitis, Inflammation of the large intestine, Recurrent aphthous s... ORPHA:29207
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Optic nerve hypoplasia, Decreased ner... ORPHA:101085
Sepsis In Premature Infants
Decreased body weight, Small for gestational age, Gastrointestinal dysmotility, Decreased liver f... ORPHA:90051
Thymoma
Neoplasm of the gastrointestinal tract, Myositis, Glomerulonephritis, Rheumatoid arthritis, Ulcer... ORPHA:99867
Sandifer Syndrome
Hiatus hernia, Gastroesophageal reflux, Feeding difficulties, Hematemesis, Episodic vomiting, Eso... ORPHA:71272
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Hepatitis, Villous atrophy, Diarrhea, Skin rash, Recurrent skin infection... OMIM:619381
Kindler Epidermolysis Bullosa
Recurrent skin infections, Colitis, Periodontitis, Inflammation of the large intestine, Cheilitis... ORPHA:2908
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Pancolitis, Failure to thrive, Eosinophilic infiltration of the esophagus, Anope... OMIM:618213
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Glycine Encephalopathy With Normal Serum Glycine
Flexion contracture, Low-set ears, Joint laxity, Hip contracture, Arthrogryposis multiplex congen... OMIM:617301
Idiopathic Hypereosinophilic Syndrome
Feeding difficulties in infancy, Cholangitis, Chronic hepatitis, Colitis, Chronic diarrhea, Eczem... ORPHA:3260
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Dystonia, Resting tremor, Osteopenia, Optic neuro... ORPHA:909
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Bronchiectasis, Intestinal atresia, Dy... OMIM:619708
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Nausea, Bloody diarrhea, Pneumonia, Abdominal cramps, Intussusception, My... ORPHA:544482
Sweet Syndrome
Myositis, Acne inversa, Acne, Inflammation of the large intestine, Oligoarthritis, Panniculitis, ... ORPHA:3243
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Hepatoblastoma, Small for gestational age, Colitis, Villou... ORPHA:84064
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Infectious encephalitis, Bronchiectasis, Eczema, Thyroiditis, Enterocolitis, Hepatitis, Abnormal ... ORPHA:391487
Infantile Krabbe Disease
Opisthotonus, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials... ORPHA:206436
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Hearing impairment, Macrotia, Absent brainstem aud... ORPHA:90321
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Protuberant abdomen, Periodontitis, Inflammation of the large intestine, Thyroiditis, Failure to ... ORPHA:79259
Congenital Factor Xiii Deficiency
Hepatic failure, Inflammation of the large intestine ORPHA:331
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Primary Sclerosing Cholangitis
Abnormal large intestine physiology, Adenocarcinoma of the large intestine, Uveitis, Cholangiocar... ORPHA:171
Cocaine Intoxication
Intestinal perforation, Nausea, Bloody diarrhea, Colitis, Glomerulonephritis, Tubulointerstitial ... ORPHA:90068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Interface hepatitis, Inflammation of the large intestine, Granulomatous c... ORPHA:562639
Plague
Bloody diarrhea, Lymphadenitis, Erythema nodosum, Arthritis, Inflammatory abnormality of the eye,... ORPHA:707
Trisomy 10P
Low-set ears, Flexion contracture of thumb, EEG with burst suppression, Abnormal auditory evoked ... ORPHA:171929
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Cockayne Syndrome B
Limitation of joint mobility, Sensorineural hearing impairment, Ivory epiphyses of the phalanges ... OMIM:133540
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Autoimmune Lymphoproliferative Syndrome
Uveitis, Gastritis, Colitis, Glomerulonephritis, Recurrent aphthous stomatitis, Thyroiditis, Hepa... ORPHA:3261
Cockayne Syndrome A
Limitation of joint mobility, Sensorineural hearing impairment, Ivory epiphyses of the phalanges ... OMIM:216400
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia, Optic atrophy ORPHA:79330
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Pneumonia, Inflammation of the large intestine, Eczema, Otitis media, Diarrhea OMIM:600903
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Sensorineural hearing impairment, Contractures of the large joints, Low-set, posteriorl... ORPHA:521426
Wiskott-Aldrich Syndrome
Sinusitis, Hematochezia, Blepharitis, Arthritis, Chronic diarrhea, Inflammation of the large inte... ORPHA:906
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Small for gestational age, Feeding difficulties, Perianal dermatitis, Cleft pala... OMIM:619573
Tay-Sachs Disease
Dystonia, Limited knee extension, Limited elbow extension, Laryngeal dystonia, Exaggerated startl... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
X-Linked Lymphoproliferative Disease
Hepatic failure, Colitis, Decreased liver function, Myocarditis, Inflammation of the large intest... ORPHA:2442
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, High palate, Bifid uvula, Gastroesophageal reflux, Pyloric steno... OMIM:617137
Wiskott-Aldrich Syndrome
Recurrent pneumonia, Recurrent otitis media, Chronic diarrhea, Inflammation of the large intestin... OMIM:301000
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Uveitis, Weight loss, Anorexia, Inflammation of the large int... OMIM:181000
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Dystonia, Exaggerated startle response ORPHA:438216
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Obesity, Inflammation of the large intestine ORPHA:70591
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Contractures of the large joints, Posteriorly rotated ears, Exaggerated startle res... OMIM:617527
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Optic atrophy, Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Low-set ears, Macrotia, Hearing impairment, Exaggerated startle response ORPHA:79255
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:99413
Turner Syndrome
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:881
Mosaic Monosomy X
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:99228
Monosomy X
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:99226
Mowat-Wilson Syndrome
Recurrent otitis media, Bifid uvula, Decreased body weight, Constipation, Gastrointestinal dysmot... ORPHA:2152
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Osteopenia, Joint laxity, Osteoporosis, Optic disc pallor, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Low-set ears, Microtia, Joint hypermobility, Posteriorly rotated ears, Exaggerated... 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.

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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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