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Gene: Hagh MGI:95745

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Gene Summary

Name:
hydroxyacyl glutathione hydrolase
Synonyms:
Rsp29,  Glo2,  Glo-2

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased red blood cell distribution width Haghem1(IMPC)Tcp HOM Early adult 5.89×10-07
cataract Haghem1(IMPC)Tcp HOM   Early adult 1.56×10-05
decreased mean corpuscular volume Haghem1(IMPC)Tcp HOM Early adult 9.30×10-06
decreased hematocrit Haghem1(IMPC)Tcp HOM Early adult 5.51×10-05
abnormal sternum morphology Haghem1(IMPC)Tcp HOM Early adult 0.00
abnormal lens morphology Haghem1(IMPC)Tcp HOM Early adult 3.04×10-07

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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 Ophthalmoscopy

94 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Slit Lamp

114 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
OMIM:614033

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... OMIM:615631
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract OMIM:274205
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 42
Cataract, Developmental cataract OMIM:115900
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Spl... OMIM:224120
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Trichomegaly
Cataract OMIM:190330
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
X-Linked Retinoschisis
Cataract ORPHA:792
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Galactosemia Iv
Cataract OMIM:618881
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly OMIM:615995
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... ORPHA:2760
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Cataract, Abnormal femur morphology, Lower limb undergrowth ORPHA:2310
Galactosemia Ii
Cataract OMIM:230200
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Anisocytosis, Camptodactyly OMIM:604273
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Cataract, Small hand OMIM:300261
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Cataract, Split foot, Hand monodactyly OMIM:183800
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia, Brachydactyly ORPHA:2643
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Nathalie Syndrome
Cataract OMIM:255990
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract 47
Microcornea, Cataract OMIM:612018
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened epiphysis, Irregular ... ORPHA:1856
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Short metacarpal, Cataract ORPHA:2489
3-Methylglutaconic Aciduria Type 4
Cataract, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Diamond-Blackfan Anemia 6
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Increased mean corpuscular volume, T... OMIM:612561
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Galactose Epimerase Deficiency
Splenomegaly, Cataract ORPHA:79238
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Martsolf Syndrome 2
Cataract, Overlapping toe, Camptodactyly of finger, Developmental cataract, Camptodactyly OMIM:619420
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Retinitis Pigmentosa 40
Cataract OMIM:613801
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul... ORPHA:166011
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Congenital Rubella Syndrome
Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasia of the iris, Abnorm... ORPHA:290
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,... ORPHA:2557
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Cataract, Iliac crest serration, Flaring of lower rib cage, Cuppe... ORPHA:168549
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Hemochromatosis, Type 4
Cataract, Anemia OMIM:606069
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Achondrogenesis Type 2
Cataract, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, Sh... ORPHA:93296
Pellagra-Like Syndrome
Cataract OMIM:260650
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract, Genu valgum ORPHA:1381
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microcytic anemia OMIM:618805
Weill-Marchesani Syndrome
Short thumb, Brachydactyly, Cataract, Ectopia lentis ORPHA:3449
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Clin... ORPHA:2169
Cataract 48
Cataract OMIM:618415
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Absent thumb, Short thumb, Developmental glaucoma,... ORPHA:124
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Arachnodactyly, Lens subluxation, Microphakia ORPHA:171844
Aniridia 3
Aniridia, Cataract OMIM:617142
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Keratoconjunctivitis, Leukopenia, ... ORPHA:79277
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Arachnodactyly, Abnormality of neutrophils, Ocular albinism, Abnormal hip bone morpholo... ORPHA:2720
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Bardet-Biedl Syndrome 9
Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydacty... OMIM:615986
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Hip dysplasia, Astigmatism, Increased mean corpuscular volume, Throm... ORPHA:261250
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Megaloblastic anemia, Limited mobility of proximal interphalangea... OMIM:222300
Aniridia-Absent Patella Syndrome
Aniridia, Cataract, Aplasia/Hypoplasia of the patella ORPHA:1069
Diamond-Blackfan Anemia 7
Macrocytic anemia, Short thumb, Increased mean corpuscular volume, Triphalangeal thumb, Neutropenia OMIM:612562
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplica... OMIM:105650
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract, Decreased proportion of class-switched memory B cells OMIM:614878
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... OMIM:186500
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Dystonia-Deafness Syndrome 1
Cataract, Femoral retroversion, Hypoplastic scapulae OMIM:607371
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Microcornea, Postaxial fo... ORPHA:139471
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Clubbing of fingers, Cataract, Clubbing, Anemia OMIM:175500
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lym... ORPHA:508542
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Anemia, Cataract, Conjunctivitis, Corneal scarring OMIM:226600
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Cataract, Splenomegaly, Nuclear cataract, Stomatocytosis OMIM:608885
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Cataract, Hepatosplenomegaly, Stomatocytosis, Zonular cataract, Bra... ORPHA:168577
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, Anterior syne... OMIM:601552
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia OMIM:269200
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Craniorachischisis
Bifid sternum ORPHA:63260
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Clubbing, Hypochromic microcytic anemia ORPHA:97214
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Hydroxyacyl Glutathione Hydrolase Deficiency
OMIM:614033

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 Hagh

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 Hagh.

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

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MGI Allele Allele Type Produced
Haghtm44797(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Haghem1(IMPC)Tcp Exon Deletion Mice
Haghtm44797(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Haghtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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