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Gene: Spata13 MGI:104838

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Gene Summary

Name:
spermatogenesis associated 13
Synonyms:
ESTM11

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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.

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Spata13 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 Spata13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Gait ataxia OMIM:618221
Chromosome 15Q11-Q13 Duplication Syndrome
Unsteady gait, Impaired ability to form peer relationships, Impaired social interactions, Truncal... OMIM:608636
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
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
Hsd10 Disease
Choreoathetosis, Abnormal social behavior, Ataxia, Gait disturbance ORPHA:391417
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Parkinson Disease 17
Akinesia OMIM:614203
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Perry Syndrome
Inappropriate behavior, Short stepped shuffling gait, Akinesia OMIM:168605
Manganese Poisoning
Gait disturbance, Inappropriate laughter, Akinesia ORPHA:306682
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Congenital Myopathy 9A
Akinesia OMIM:618822
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
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
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Gait disturbance OMIM:606693
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Akinesia ORPHA:240071
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia ORPHA:530983
Congenital Myopathy 12
Akinesia OMIM:612540
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Gait ataxia ORPHA:48818
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Progressive gait ataxia, Tip-toe gait, Gait ataxia ORPHA:309256
Postencephalitic Parkinsonism
Akinesia ORPHA:97349
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Ataxia ORPHA:1020
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
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior ORPHA:93932
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Abnormal social behavior ORPHA:309263
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia OMIM:609454
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Metachromatic Leukodystrophy, Adult Form
Progressive gait ataxia, Abnormal social behavior, Difficulty walking ORPHA:309271
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia OMIM:601104
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Abnormal social behavior ORPHA:314647
Neurodegeneration With Brain Iron Accumulation 1
Choreoathetosis, Akinesia, Ataxia, Gait disturbance OMIM:234200
Dpagt1-Cdg
Inability to walk, Ataxia, Akinesia ORPHA:86309
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions ORPHA:177907
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Overfriendliness ORPHA:363958
Trichothiodystrophy
Reduced social reciprocity, Gait ataxia ORPHA:33364
African Trypanosomiasis
Choreoathetosis, Difficulty walking, Gait disturbance, Akinesia ORPHA:3385
Niemann-Pick Disease Type C
Progressive gait ataxia, Abnormal social behavior, Ataxia, Gait disturbance ORPHA:646
Mend Syndrome
Abnormal social behavior ORPHA:401973
Williams Syndrome
Ataxia, Dysmetria, Gait disturbance, Gait imbalance, Abnormal social behavior, Overfriendliness ORPHA:904
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805

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 Spata13

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 Spata13.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The guanine nucleotide exchange factor, Spata13, influences social behaviour and nocturnal activity. Mammalian genome : official journal of the International Mammalian Genome Society (April 2019) Spata13em1(IMPC)H PMC6491400

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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
Spata13tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Spata13em1(IMPC)H Exon Deletion Mice
Spata13tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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