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Gene: Hibch MGI:1923792

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Gene Summary

Name:
3-hydroxyisobutyryl-Coenzyme A hydrolase
Synonyms:
2610509I15Rik,  HIBYL-COA-H

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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
abnormal neural tube morphology Hibchem1(IMPC)Tcp HET E9.5 0.00
embryonic growth retardation Hibchem1(IMPC)Tcp HET E9.5 0.00
abnormal embryo size Hibchem1(IMPC)Tcp HET E9.5 0.00
abnormal forebrain development Hibchem1(IMPC)Tcp HOM E9.5 0.00
abnormal kidney morphology Hibchem1(IMPC)Tcp HET Early adult 0.00
abnormal neural tube closure Hibchem1(IMPC)Tcp HET E9.5 0.00
abnormal midbrain development Hibchem1(IMPC)Tcp HOM E9.5 0.00
abnormal hindbrain development Hibchem1(IMPC)Tcp HOM E9.5 0.00
abnormal embryo size Hibchem1(IMPC)Tcp HOM E9.5 0.00
embryonic growth retardation Hibchem1(IMPC)Tcp HOM E9.5 0.00
abnormal forebrain development Hibchem1(IMPC)Tcp HET E9.5 0.00
abnormal neural tube closure Hibchem1(IMPC)Tcp HOM E9.5 0.00
preweaning lethality, complete penetrance Hibchem1(IMPC)Tcp HOM   Early adult 0.00
abnormal hindbrain development Hibchem1(IMPC)Tcp HET E9.5 0.00
abnormal midbrain development Hibchem1(IMPC)Tcp HET E9.5 0.00
cataract Hibchem1(IMPC)Tcp HET   Early adult 7.49×10-05
abnormal neural tube morphology Hibchem1(IMPC)Tcp HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Hibchem1(IMPC)Tcp HOM   E12.5 0.00

Download data as:  TSV  XLS

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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

99 Images

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Gross Morphology Embryo E9.5

Images

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

36 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
ORPHA:88639

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 45
Developmental cataract OMIM:616851
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cataract 44
Developmental cataract OMIM:616509
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cataract 42
Cataract, Developmental cataract OMIM:115900
Trichomegaly
Cataract OMIM:190330
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Ii
Galactosuria, Cataract OMIM:230200
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract OMIM:619813
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Galactosemia Iv
Cataract OMIM:618881
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
X-Linked Retinoschisis
Cataract ORPHA:792
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy OMIM:602475
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Nathalie Syndrome
Cataract OMIM:255990
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Retinitis Pigmentosa 40
Cataract OMIM:613801
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias ORPHA:1381
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Aniridia 3
Aniridia, Cataract OMIM:617142
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Pellagra-Like Syndrome
Cataract OMIM:260650
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma ORPHA:1473
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 48
Cataract OMIM:618415
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Cataract 24
Anterior polar cataract OMIM:601202
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder, Cataract OMIM:617370
Microtia-Anotia
Holoprosencephaly OMIM:600674
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Cataract OMIM:146200
Alg3-Cdg
Neural tube defect ORPHA:79321
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
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
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... ORPHA:63259
Cahmr Syndrome
Lamellar cataract OMIM:211770
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Cataract, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Anterior l... OMIM:308940
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
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
Semilobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93924
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia ORPHA:798
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
ORPHA:88639

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 Hibch

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 Hibch.

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

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MGI Allele Allele Type Produced
Hibchtm49654(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hibchem1(IMPC)Tcp Exon Deletion Mice

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