Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

myosin IA
Myhl,  BBM-I,  brush border myosin 1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Myo1a 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 Myo1a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Diarrhea 9
Villous atrophy OMIM:618168
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Jejunal Atresia
Jejunal atresia OMIM:243600
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Multiple Intestinal Atresia
Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Duodenal Atresia
Duodenal atresia OMIM:223400
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Increased fecal bile acid, Steatorrhea OMIM:613291
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Esophagitis, Du... OMIM:619079
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Diverticulosis, Small-Intestinal
Ulcerative colitis, Jejunoileal diverticula, Duodenal diverticula, Jejunal diverticula OMIM:223320
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy OMIM:614162
Proprotein Convertase 1/3 Deficiency
Malabsorption, Villous atrophy OMIM:600955
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Aganglionic megacolon, Abnormality of the small intestine, Enteroco... ORPHA:95427
Microvillus Inclusion Disease
Abnormality of small intestinal villus morphology, Villous atrophy ORPHA:2290
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Congenital Tufting Enteropathy
Abnormal small intestinal mucosa morphology, Anal atresia, Malabsorption, Villous atrophy, Elevat... ORPHA:92050
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Villous atrophy OMIM:602579
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Intussusception OMIM:147710
Netherton Syndrome
Abnormal intestine morphology, Intestinal atresia, Villous atrophy OMIM:256500
Congenital Short Bowel Syndrome
Intestinal malrotation, Decreased intestinal transit time, Abnormal peristalsis, Intestinal atres... OMIM:615237
Trichohepatoenteric Syndrome 2
Colitis, Villous atrophy OMIM:614602
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Villous atrophy OMIM:601110
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Villous atrophy OMIM:616050
Refractory Celiac Disease
Jejunitis, Malabsorption, Protein-losing enteropathy, Villous atrophy ORPHA:398063
Vascular Hyalinosis
Hematochezia, Malabsorption, Protein-losing enteropathy OMIM:277175
Bare Lymphocyte Syndrome, Type Ii
Colitis, Malabsorption, Villous atrophy OMIM:209920
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Abnormality of... ORPHA:90362
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Alpha-Heavy Chain Disease
Malabsorption, Abnormality of the small intestine ORPHA:100025
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Villous atrophy OMIM:304790
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, Atrophic gastritis, Villous atrophy, Inflammation of the large intestine OMIM:614700
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Ileoileal intussusception, Villous atrophy OMIM:619377
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Barrett esophagus, Hypoperistalsis OMIM:611376
Colonic Atresia
Colonic atresia, Duodenal stenosis, Peptic ulcer ORPHA:1198
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... OMIM:300048
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Eosinophilic Gastroenteritis
Hematochezia, Abnormality of the gastrointestinal tract, Malabsorption, Dysphagia, Protein-losing... ORPHA:2070
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Microcolon OMIM:251400
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Pearson Marrow-Pancreas Syndrome
Malabsorption, Villous atrophy, Steatorrhea OMIM:557000
Syndromic Diarrhea
Colitis, Hepatoblastoma, Gastritis, Villous atrophy ORPHA:84064
Gastroesophageal reflux, Bifid uvula, Villous atrophy ORPHA:79328
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Gastrointestinal carcinoma, Hamartomatous polyposis, Malabsorption, Protein-losing ... OMIM:175500
Trichohepatoenteric Syndrome 1
Bifid uvula, Villous atrophy OMIM:222470
Immunodeficiency 87 And Autoimmunity
Perianal dermatitis, Cleft palate, Villous atrophy, Necrotizing enterocolitis, Atrophic gastritis... OMIM:619573
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Enterocolitis, Abnormal intestine morphology, Villous atrophy, Esophageal carcinoma ORPHA:391487
Parenteral Nutrition-Associated Cholestasis
Villous atrophy ORPHA:567983
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Colitis, Villous atrophy, Anoperineal fistula, Gastritis, Duodenal ulcer OMIM:619381
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... ORPHA:801
Systemic Sclerosis
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... ORPHA:90291
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intussusception, High, narrow palate, Rectal prolapse,... ORPHA:79076
Juvenile Polyposis Syndrome
Hematochezia, Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal pol... ORPHA:2929
Whim Syndrome
Abnormality of the small intestine, Parotitis ORPHA:51636
Fraser Syndrome 1
Abnormality of the anus, Abnormality of the small intestine, Cleft palate OMIM:219000


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 Myo1a

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 Myo1a.

No publications found that use IMPC mice or data for Myo1a.

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MGI Allele Allele Type Produced
Myo1aem1(IMPC)Bay Exon Deletion Mice
Myo1atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Myo1atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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