Gene Summary

Name:
myosin, heavy polypeptide 8, skeletal muscle, perinatal
Synonyms:
Myhs-p,  Myhsp,  MyHC-pn,  4832426G23Rik

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
enlarged urinary bladder Myh8em1(IMPC)Tcp HET Early adult 0.00
edema Myh8em1(IMPC)Tcp HOM E15.5 0.00
decreased hematocrit Myh8em1(IMPC)Tcp HET Early adult 2.35×10-07
preweaning lethality, complete penetrance Myh8em1(IMPC)Tcp HOM   Early adult 0.00
abnormal embryo size Myh8em1(IMPC)Tcp HOM E15.5 0.00
abnormal sternum morphology Myh8em1(IMPC)Tcp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

Images Slit Lamp

96 Images

Eye Morphology

Images Ophthalmoscopy

100 Images

Gross Morphology Embryo E14.5-E15.5

Images

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

2 Images

Human diseases caused by Myh8 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 Myh8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Trismus-Pseudocamptodactyly Syndrome
Symphalangism affecting the phalanges of the hand, Hip dislocation ORPHA:3377
Arthrogryposis, Distal, Type 7
Metatarsus adductus, Hammertoe, Cutaneous syndactyly of toes, Hip dislocation OMIM:158300
Carney Complex Variant
OMIM:608837

The table below shows human diseases predicted to be associated to Myh8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Lymphatic Malformation 2
Lymphedema OMIM:611944
Lymphatic Malformation 14
Lymphedema OMIM:620602
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
White Sponge Nevus 2
Edema OMIM:615785
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Lymphatic Malformation 10
Lymphedema OMIM:619369
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
Craniorachischisis
Bifid sternum ORPHA:63260
Coffin-Lowry Syndrome
Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Drum... OMIM:303600
Trismus-Pseudocamptodactyly Syndrome
Symphalangism affecting the phalanges of the hand, Hip dislocation ORPHA:3377
Arthrogryposis, Distal, Type 7
Metatarsus adductus, Hammertoe, Cutaneous syndactyly of toes, Hip dislocation OMIM:158300
Carney Complex Variant
OMIM:608837

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 Myh8

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 Myh8.

No publications found that use IMPC mice or data for Myh8.

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
Myh8tm2e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Myh8tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Myh8tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Myh8em1(IMPC)Tcp Exon Deletion Mice
Myh8tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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