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Gene: Myl9 MGI:2138915

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myosin, light polypeptide 9, regulatory
Synonyms:
MLC20,  Mylc2c,  RLC-C

Order Alleles

IMPC Data Collections

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

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.

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 Myl9 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.

The table below shows human diseases associated to Myl9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365

The table below shows human diseases predicted to be associated to Myl9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Hydronephrosis, Fetal megacystis, Neonatal death, Microcolon OMIM:619362
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hydronephrosis OMIM:619431
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Adrenomyodystrophy
Abnormality of the urinary system, Abnormal intestine morphology, Megacystis ORPHA:977
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... OMIM:155310
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... ORPHA:2241
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis, Intestinal malrotation OMIM:249210
Familial Visceral Myopathy
Hydroureter, Aganglionic megacolon, Megacystis, Cleft palate, Vesicoureteral reflux ORPHA:2604
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogeni... OMIM:619351
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Polyuria OMIM:304800
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Absence of Stensen duc... OMIM:604292
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Brain-Lung-Thyroid Syndrome
Vesicoureteral reflux, Hypospadias, Megacystis ORPHA:209905
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno... ORPHA:93930
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis ORPHA:73246
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... OMIM:600057
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria, Cleft palate ORPHA:2728
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel... OMIM:265380
Acro-Renal-Ocular Syndrome
Renal malrotation, Aganglionic megacolon, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div... ORPHA:959
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Hydroureter, Absence of Stensen duct, Renal agenes... OMIM:129900
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Pyloric stenosis, Pyelonephritis, Urethral diverticulum, Mult... ORPHA:90349
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum OMIM:219100
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux, Multiple bladder diverticula, Hydrone... OMIM:613177
Occipital Horn Syndrome
Ureteral obstruction, Hiatus hernia, Bladder diverticulum, High palate, Hydronephrosis OMIM:304150
Occipital Horn Syndrome
Recurrent urinary tract infections, Hiatus hernia, High, narrow palate, Bladder diverticulum, Gas... ORPHA:198
Menkes Disease
Gastrointestinal hemorrhage, Bladder diverticulum, Malabsorption ORPHA:565
Williams Syndrome
Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, G... ORPHA:904
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum ORPHA:2976
Williams-Beuren Syndrome
Colonic diverticula, Recurrent urinary tract infections, Renal insufficiency, Celiac disease, Rec... OMIM:194050
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Bladder diverticulum, Decreased urinary lysyl-pyridinoline-hydroxyly... OMIM:225400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bladder diverticulum, Cleft soft palate OMIM:614557
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis, Small bowel diverticula ORPHA:90348
Kyphoscoliotic Ehlers-Danlos Syndrome
Bladder diverticulum, High palate ORPHA:536545
Classical Ehlers-Danlos Syndrome
Bladder diverticulum, Rectal prolapse, Gastroesophageal reflux, Hiatus hernia ORPHA:287
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Esophageal atresia, Tracheoesophage... OMIM:192350
Vascular Ehlers-Danlos Syndrome
Hypospadias, High, narrow palate, Cystocele, Renovascular hypertension, Bladder diverticulum, Gas... ORPHA:286

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 Myl9

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 Myl9.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
MYL9 deficiency is neonatal lethal in mice due to abnormalities in the lung and the muscularis propria of the bladder and intestine. PloS one (July 2022) Myl9tm1a(KOMP)Wtsi PMC9269942

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
Myl9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Myl9tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Myl9tm44002(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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