Gene Summary

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

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
decreased mean corpuscular volume Haghem1(IMPC)Tcp HOM Early adult 1.45×10-05
increased red blood cell distribution width Haghem1(IMPC)Tcp HOM Early adult 7.91×10-07
cataract Haghem1(IMPC)Tcp HOM   Early adult 2.98×10-06
abnormal lens morphology Haghem1(IMPC)Tcp HOM Early adult 9.47×10-08
abnormal sternum morphology Haghem1(IMPC)Tcp HOM Early adult 0.00

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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.

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Slit Lamp

114 Images

Eye Morphology

Images Ophthalmoscopy

94 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
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
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Aniridia 3
Cataract OMIM:617142
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocytosis, M... OMIM:224120
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract OMIM:274205
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocy... OMIM:615631
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Trichomegaly
Cataract OMIM:190330
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
X-Linked Retinoschisis
Cataract ORPHA:792
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Galactosemia Iv
Cataract OMIM:618881
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly OMIM:615995
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Galactosemia Ii
Cataract OMIM:230200
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Lower limb undergrowth, Abnormality of femur morphology, Cat... ORPHA:2310
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Duplication involving bones of the feet OMIM:246000
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split foot, Cataract, Split hand OMIM:183800
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Cataract OMIM:212540
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Oslam Syndrome
Clinodactyly of the 5th finger, Abnormality of neutrophils, Increased mean corpuscular volume, Ra... ORPHA:2760
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Small hand, Cataract OMIM:300261
Cataract 47
Microcornea, Cataract OMIM:612018
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Nathalie Syndrome
Cataract OMIM:255990
Orotic Aciduria
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... OMIM:258900
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... ORPHA:71275
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Cataract 11, Multiple Types
Cataract OMIM:610623
Microcephalic Primordial Dwarfism, Toriello Type
Short middle phalanx of finger, Neutropenia, Radial deviation of finger, Short foot, Short proxim... OMIM:251190
Aniridia And Absent Patella
Aniridia, Aplasia/Hypoplasia of the patella, Cataract OMIM:106220
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Abnormality of epiphysis morphology, Abnormal rib morphology, Cataract, Brachydactyly ORPHA:2643
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614876
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Cataract, Coxa valga, Short phalanx of finger, Brachydactyly OMIM:132450
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Short thumb, Cataract ORPHA:2489
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Cataract, Delayed ossification of carpal bones, Short ... OMIM:127200
Aniridia 2
Aniridia, Cataract OMIM:617141
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Arachnodactyly, Sandal gap, Cataract, Abnormality of pelvic girdle bone... ORPHA:2725
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Bowing of the long bones, Splenomegaly, Genu valgum, Persistence o... ORPHA:231226
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Retinitis Pigmentosa 84
Cataract OMIM:618220
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Small hand, Cataract, Short palm, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85172
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, Cataract ORPHA:67048
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Martsolf Syndrome 2
Developmental cataract, Cataract, Camptodactyly of finger, Camptodactyly, Overlapping toe OMIM:619420
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Abnormal acetabulum morphology, Reduced proximal interphalangeal joint sp... ORPHA:166011
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Pellagra-Like Syndrome
Cataract OMIM:260650
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Genu valgum ORPHA:1381
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Diamond-Blackfan Anemia 6
Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Persistence of hemoglo... OMIM:612561
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Mietens Syndrome
Metatarsus adductus, Sclerocornea, Avascular necrosis of the capital femoral epiphysis, Hypoplasi... ORPHA:2557
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Proximal femoral metaphyseal irregularity, Upper limb undergrowth, Fla... ORPHA:168549
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Congenital Varicella Syndrome
Cataract ORPHA:291
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Retinitis Pigmentosa 4
Cataract OMIM:613731
Autosomal Recessive Stickler Syndrome
Abnormality of epiphysis morphology, Epiphyseal dysplasia, Genu valgum, Cataract, Astigmatism ORPHA:250984
Hypomelanosis Of Ito
Iris coloboma, Radial deviation of finger, Syndactyly, Cataract, Hand polydactyly, Clinodactyly OMIM:300337
Congenital Rubella Syndrome
Anemia, Abnormality of the metaphysis, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opac... ORPHA:290
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Metatropic Dysplasia
Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Halberd-shaped pelvis, Abnor... ORPHA:2635
Cataract 43
Subcapsular cataract OMIM:616279
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Dystonia, Juvenile-Onset
Cataract, Hypoplastic scapulae OMIM:607371
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Short ribs, Cataract, Short l... ORPHA:93296
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Hemochromatosis, Type 4
Anemia, Cataract OMIM:606069
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma OMIM:212550
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation, Arachnodactyly ORPHA:171844
Retinitis Pigmentosa 2
Cataract OMIM:312600
Saul-Wilson Syndrome
Neutropenia, Short metatarsal, Short metacarpal, Short distal phalanx of finger, Cataract, Coxa v... OMIM:618150
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Retinitis Pigmentosa 9
Cataract OMIM:180104
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial polydactyly, Syndactyly, Cataract, Postaxial hand polydactyly, Postaxial f... OMIM:615986
Aniridia-Absent Patella Syndrome
Aniridia, Aplasia/Hypoplasia of the patella, Cataract ORPHA:1069
Blackfan-Diamond Anemia
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Triphalangea... ORPHA:124
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Stiff Skin Syndrome
Cataract, Camptodactyly OMIM:184900
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Nevus Comedonicus Syndrome
Toe syndactyly, Preaxial polydactyly, Cataract, Finger syndactyly ORPHA:64754
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Cataract OMIM:618805
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Syndactyly, Pancytopenia, Clin... ORPHA:2169
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Arachnodactyly, Hypochromic anemia, Cataract, Iris hypopigmentation, Abnormal hi... ORPHA:2720
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Corneal ulceration, Poikilocytosis... ORPHA:79277
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Cataract, Epiphyseal stippling OMIM:302950
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Hip dislocation, Developmental cataract, Cataract, Genu valgum ORPHA:436174
Weill-Marchesani Syndrome
Short thumb, Cataract, Brachydactyly, Ectopia lentis ORPHA:3449
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Cataract, Splenomegaly OMIM:608885
Pseudopseudohypoparathyroidism
Short metatarsal, Short metacarpal, Cataract, Brachydactyly OMIM:612463
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Proximal placement of thumb, Hip dysplasia, ... ORPHA:261250
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Achromatopsia 3
Cataract OMIM:262300
Diamond-Blackfan Anemia 7
Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Neutropenia, Short thumb OMIM:612562
Multiple Synostoses Syndrome 1
Tarsal synostosis, Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Proximal s... OMIM:186500
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Proximal placement of thumb, Iris coloboma, Finger syndactyly, Cataract, Postaxial ... ORPHA:139471
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Proximal femoral epiphysiolysis, Normocytic ... ORPHA:811
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Nail-Patella Syndrome
Patellar aplasia, Hypoplastic radial head, Hypoplasia of first ribs, Lester's sign, Microphakia, ... OMIM:161200
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Clubbing of fingers, Anemia, Cataract, Clubbing OMIM:175500
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Metatarsus adductus, Absent hallux, Cataract, Microcornea, Absent toe OMIM:608279
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Short metacarpal, Cataract, Reticulocytopenia... ORPHA:508542
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Zonular cataract, Hepatosplenomegaly, Cataract, Spontaneous hemolytic crises, Bra... ORPHA:168577
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Anemia, Cataract, Conjunctivitis OMIM:226600
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Iris coloboma, Aplasia/Hypoplasia involving the pelvis, Abnormal rib morphology, Ca... ORPHA:3301
Ifap Syndrome 2
Keratoconjunctivitis sicca, Cataract, Keratitis OMIM:619016
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Cataract, Band keratopathy, Keratoconjunctivitis OMIM:269200
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Weill-Marchesani Syndrome 1
Broad metatarsal, Shallow anterior chamber, Ectopia lentis, Microspherophakia, Broad phalanges of... OMIM:277600
Weill-Marchesani Syndrome 2
Broad metatarsal, Shallow anterior chamber, Flexion contracture of toe, Ectopia lentis, Iridodone... OMIM:608328
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Aplasi... ORPHA:959
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Epiphyseal stippling OMIM:118650
Autosomal Dominant Optic Atrophy And Cataract
Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Abnormal thumb ... ORPHA:67036
Craniorachischisis
Bifid sternum ORPHA:63260
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia, Clubbing ORPHA:97214
Coffin-Lowry Syndrome
Tapered finger, Bifid sternum, Narrow iliac wing, Short metacarpal, Drumstick terminal phalanges,... 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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