Gene Summary

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

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

99 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

36 Images

Gross Morphology Embryo E9.5

Images

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy OMIM:602475
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Craniofacial Microsomia 2
Dermal sinus tract OMIM:620444
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Holoprosencephaly, Intraut... ORPHA:1908
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Microtia-Anotia
Holoprosencephaly OMIM:600674
Alg3-Cdg
Neural tube defect ORPHA:79321
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Iniencephaly
Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holoprosen... ORPHA:63259
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect, Short stature, Growth delay ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect, Short stature, Growth delay ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect, Short stature, Growth delay ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect, Short stature, Growth delay ORPHA:220386
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.

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
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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