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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
Optic atrophy, Obesity, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation... 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
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele 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
Cerebellar dysplasia, Neural tube defect OMIM:615041
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... ORPHA:240094
Congenital Myopathy 9A
Short stature, Obesity, Akinesia OMIM:618822
Spinocerebellar Ataxia Type 27
Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia ORPHA:98764
Parkinson Disease 17
Akinesia OMIM:614203
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia ORPHA:391411
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Failure to thrive, Choreoathetosis OMIM:618249
Spinocerebellar Ataxia 21
Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia OMIM:607454
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Perry Syndrome
Short stepped shuffling gait, Akinesia, Weight loss OMIM:168605
Corticobasal Syndrome
Akinesia, Gait disturbance 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
Akinesia, Growth delay, Small for gestational age, Failure to thrive OMIM:619147
Congenital Myopathy 12
Akinesia, Small for gestational age OMIM:612540
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Akinesia, Gait ataxia, Ataxia, Dysdiadochokinesis ORPHA:247234
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Manganese Poisoning
Akinesia, Gait disturbance ORPHA:306682
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Akinesia ORPHA:994
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Akinesia OMIM:225790
Kufor-Rakeb Syndrome
Akinesia, Gait disturbance, Ataxia OMIM:606693
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Akinesia OMIM:253290
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Gait imbalance, Falls ORPHA:240071
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Weight loss, Akinesia ORPHA:411602
Aceruloplasminemia
Akinesia, Limb ataxia, Gait ataxia, 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
Intrauterine growth retardation, Growth delay, Akinesia OMIM:618947
Supranuclear Palsy, Progressive, 2
Akinesia, Gait imbalance, Falls OMIM:609454
Dpagt1-Cdg
Inability to walk, Akinesia, Failure to thrive, Ataxia ORPHA:86309
Supranuclear Palsy, Progressive, 1
Akinesia, Gait imbalance, Falls OMIM:601104
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Gait disturbance, Choreoathetosis, Ataxia OMIM:234200
African Trypanosomiasis
Difficulty walking, Akinesia, Weight loss, Gait disturbance, Choreoathetosis ORPHA:3385
Retinitis Pigmentosa
Optic atrophy, Obesity, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation... 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
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele 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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