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Gene: Ahi1 MGI:87971

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Abelson helper integration site 1
Synonyms:
Jouberin,  D10Bwg0629e,  1700015F03Rik,  Ahi-1

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ahi1 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 Ahi1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Obesity ORPHA:791
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Retinal dystrophy, Retinal coloboma ORPHA:220493
Joubert Syndrome
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:475

The table below shows human diseases predicted to be associated to Ahi1 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, Cerebellar dysplasia OMIM:615041
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Congenital Myopathy 9A
Short stature, Obesity, Akinesia OMIM:618822
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
Parkinson Disease 17
Akinesia OMIM:614203
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... ORPHA:240094
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Perry Syndrome
Short stepped shuffling gait, Akinesia, Weight loss OMIM:168605
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Failure to thrive, Akinesia, Truncal ataxia OMIM:618249
Corticobasal Syndrome
Gait disturbance, Akinesia ORPHA:454887
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Growth delay, Failure to thrive, Small for gestational age, Akinesia OMIM:619147
Congenital Myopathy 12
Small for gestational age, Akinesia OMIM:612540
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait ORPHA:247234
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Akinesia ORPHA:994
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Gait disturbance OMIM:606693
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Akinesia OMIM:225790
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Akinesia OMIM:253290
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Akinesia ORPHA:240071
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia, Weight loss ORPHA:411602
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Gait ataxia ORPHA:48818
Postencephalitic Parkinsonism
Akinesia ORPHA:97349
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Akinesia, Decreased body weight OMIM:608013
Arthrogryposis Multiplex Congenita 5
Growth delay, Intrauterine growth retardation, Akinesia OMIM:618947
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia OMIM:609454
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia OMIM:601104
Dpagt1-Cdg
Inability to walk, Failure to thrive, Ataxia, Akinesia ORPHA:86309
Neurodegeneration With Brain Iron Accumulation 1
Choreoathetosis, Akinesia, Ataxia, Gait disturbance OMIM:234200
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Obesity ORPHA:791
African Trypanosomiasis
Akinesia, Weight loss, Choreoathetosis, Gait disturbance, Difficulty walking ORPHA:3385
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Retinal dystrophy, Retinal coloboma ORPHA:220493
Joubert Syndrome
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:475

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 Ahi1

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 Ahi1.

No publications found that use IMPC mice or data for Ahi1.

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
Ahi1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ahi1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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