Gene: Shprh MGI:1917581

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Gene Summary

Name:
SNF2 histone linker PHD RING helicase
Synonyms:
2610103K11Rik,  D230017O13Rik

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
cataract Shprhem1(IMPC)Tcp HOM   Early adult 5.72×10-05
decreased mean corpuscular hemoglobin concentration Shprhem1(IMPC)Tcp HOM Early adult 4.44×10-05
enlarged thymus Shprhem1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Shprhem1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

12 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Histopathology

Images

1 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Human diseases caused by Shprh 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 Shprh by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Aniridia 3
Cataract OMIM:617142
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly, Anemia OMIM:273680
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Trichomegaly
Cataract OMIM:190330
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Hypersplenism, Splenomegaly, Anemia, Abnorma... ORPHA:846
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Galactosemia Iv
Cataract OMIM:618881
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Galactosemia Ii
Cataract OMIM:230200
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Cataract 47
Cataract, Microcornea OMIM:612018
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Nathalie Syndrome
Cataract OMIM:255990
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Cataract 11, Multiple Types
Cataract OMIM:610623
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:848
Hemochromatosis, Type 4
Cataract, Anemia OMIM:606069
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Aniridia 2
Cataract, Aniridia OMIM:617141
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Hypogonadism-Cataract Syndrome
Cataract, Elevated circulating follicle stimulating hormone level OMIM:240950
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Retinitis Pigmentosa 84
Cataract OMIM:618220
Alg8-Cdg
Cataract ORPHA:79325
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Proteus-Like Syndrome
Heterochromia iridis, Polycystic ovaries, Abnormality of the parathyroid gland, Cataract, Splenom... ORPHA:2969
Isolated Aniridia
Aniridia, Peters anomaly, Cataract ORPHA:250923
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Pellagra-Like Syndrome
Cataract OMIM:260650
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Cataract 43
Subcapsular cataract OMIM:616279
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypoparathyroidism OMIM:146200
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, C... ORPHA:231222
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Hemolytic anemia, Splenomegaly OMIM:608885
Aniridia-Absent Patella Syndrome
Cryptorchidism, Cataract, Aniridia ORPHA:1069
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation OMIM:216820
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Beta-Thalassemia Major
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231214
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Microphakia, Lens subluxation ORPHA:171844
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, HbH hemoglobin, Microcytic anemia ORPHA:98791
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Developmental cataract, Pure r... ORPHA:124
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Cryptorchidism, HbH hemoglobin, Reduced alpha/beta synthesis ratio... OMIM:141750
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cataract, Asplenia, Band keratopathy, Keratoconjunctivitis OMIM:269200
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Cryptorchidism OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Abnormal hemoglobin, Anemia ORPHA:847
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Proteus Syndrome
Buphthalmos, Central heterochromia, Ovarian neoplasm, Macroorchidism, Cataract, Splenomegaly, Tes... ORPHA:744

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 Shprh

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 Shprh.

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

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MGI Allele Allele Type Produced
Shprhem1(IMPC)Tcp Exon Deletion Mice
Shprhtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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