Gene Summary

Name:
asteroid homolog 1
Synonyms:
1100001A21Rik

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 locomotor activation Aste1Aste1 HOM   Early adult 2.56×10-05
abnormal behavior Aste1Aste1 HOM Early adult 5.22×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 84 images

Human diseases caused by Aste1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Aste1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
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
Parkinson Disease 17
Akinesia OMIM:614203
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
Congenital Myopathy 9A
Akinesia OMIM:618822
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
Corticobasal Syndrome
Gait disturbance, Akinesia ORPHA:454887
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait ORPHA:247234
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Gait disturbance OMIM:606693
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Akinesia ORPHA:240071
Congenital Myopathy 12
Akinesia OMIM:612540
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Gait ataxia ORPHA:48818
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Postencephalitic Parkinsonism
Akinesia ORPHA:97349
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Gaucher Disease, Perinatal Lethal
Akinesia OMIM:608013
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia ORPHA:411602
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia OMIM:609454
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia OMIM:601104
Neurodegeneration With Brain Iron Accumulation 1
Choreoathetosis, Akinesia, Ataxia, Gait disturbance OMIM:234200
Dpagt1-Cdg
Inability to walk, Ataxia, Akinesia ORPHA:86309
African Trypanosomiasis
Choreoathetosis, Difficulty walking, Gait disturbance, Akinesia ORPHA:3385

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 Aste1

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 Aste1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ASTE1 promotes shieldin-complex-mediated DNA repair by attenuating end resection. Nature cell biology (August 2021) Aste1tm1a(KOMP)Wtsi 34354233
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Aste1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Aste1tm1a(KOMP)Wtsi PMC6459510

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
Aste1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Aste1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Aste1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Aste1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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