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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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
Reduced social reciprocity OMIM:618830
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity OMIM:606053
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Truncal ataxia, Unsteady gait, Reduced social recipr... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Excessive shyness OMIM:618221
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity OMIM:618103
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
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
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:608631
Spinocerebellar Ataxia Type 27
Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia ORPHA:98764
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Reduced social reciprocity OMIM:617820
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Hsd10 Disease
Gait disturbance, Abnormal social behavior, Choreoathetosis, Ataxia ORPHA:391417
Parkinson Disease 17
Akinesia OMIM:614203
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia ORPHA:391411
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Reduced social reciprocity ORPHA:397933
Perry Syndrome
Short stepped shuffling gait, Akinesia, Inappropriate behavior OMIM:168605
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Reduced social reciprocity ORPHA:329249
Manganese Poisoning
Inappropriate laughter, Gait disturbance, Akinesia ORPHA:306682
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Reduced social reciprocity, Ataxia ORPHA:137831
Spinocerebellar Ataxia 21
Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia OMIM:607454
Congenital Myopathy 9A
Akinesia OMIM:618822
Foxg1 Syndrome
Difficulty walking, Inability to walk, Reduced social reciprocity, Paroxysmal bursts of laughter,... ORPHA:561854
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Corticobasal Syndrome
Akinesia, Gait disturbance ORPHA:454887
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Atypical Rett Syndrome
Inability to walk, Inappropriate laughter, Gait ataxia, Reduced social reciprocity, Loss of ambul... ORPHA:3095
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Reduced social reciprocity, Ataxia ORPHA:544254
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Akinesia, Gait ataxia, Ataxia, Dysdiadochokinesis ORPHA:247234
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Gait apraxia, Ataxia, Dysdiadoch... OMIM:615157
Kufor-Rakeb Syndrome
Akinesia, Gait disturbance, Ataxia OMIM:606693
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Choreoathetosis OMIM:618249
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Gait imbalance, Falls ORPHA:240071
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia ORPHA:530983
Intellectual Developmental Disorder, Autosomal Dominant 56
Inability to walk, Broad-based gait, Reduced social reciprocity, Ataxia OMIM:617854
Congenital Myopathy 12
Akinesia OMIM:612540
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Parkinsonism-Dystonia 3, Childhood-Onset
Reduced social reciprocity, Ataxia OMIM:619738
Aceruloplasminemia
Akinesia, Limb ataxia, Gait ataxia, Ataxia ORPHA:48818
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Postencephalitic Parkinsonism
Akinesia ORPHA:97349
Neurodegeneration With Brain Iron Accumulation 2A
Unsteady gait, Reduced social reciprocity, Ataxia OMIM:256600
Metachromatic Leukodystrophy, Late Infantile Form
Progressive gait ataxia, Tip-toe gait, Gait ataxia, Abnormal social behavior ORPHA:309256
Childhood Disintegrative Disorder
Reduced social reciprocity ORPHA:168782
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Reduced social reciprocity OMIM:616083
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Ataxia ORPHA:1020
Myoclonic-Astatic Epilepsy
Unsteady gait, Reduced social reciprocity, Ataxia ORPHA:1942
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
Gaucher Disease, Perinatal Lethal
Akinesia OMIM:608013
X-Linked Intellectual Disability, Van Esch Type
Reduced social reciprocity ORPHA:163976
Pontocerebellar Hypoplasia, Type 8
Gait ataxia, Reduced social reciprocity OMIM:614961
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia ORPHA:411602
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Ataxia OMIM:610042
Alg11-Cdg
Reduced social reciprocity, Ataxia ORPHA:280071
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior ORPHA:93932
Supranuclear Palsy, Progressive, 2
Akinesia, Gait imbalance, Falls OMIM:609454
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Abnormal social behavior ORPHA:309263
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Gait disturbance, Reduced social reciprocity OMIM:300352
Metachromatic Leukodystrophy, Adult Form
Difficulty walking, Progressive gait ataxia, Abnormal social behavior ORPHA:309271
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Spastic ataxia, Delayed early-childhood social milestone development, Reduced ... ORPHA:300570
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Unsteady gait, Nonprogressive cerebellar ataxia, Abnormal social behavior ORPHA:314647
Supranuclear Palsy, Progressive, 1
Akinesia, Gait imbalance, Falls OMIM:601104
Young-Onset Parkinson Disease
Gait imbalance, Reduced social reciprocity ORPHA:2828
Intellectual Developmental Disorder, Autosomal Dominant 1
Inappropriate laughter, Reduced social reciprocity, Ataxia OMIM:156200
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Gait disturbance, Choreoathetosis, Ataxia OMIM:234200
Dpagt1-Cdg
Inability to walk, Akinesia, Ataxia ORPHA:86309
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Reduced social reciprocity ORPHA:261197
Beck-Fahrner Syndrome
Reduced social reciprocity OMIM:618798
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Excessive shyness, Reduced social reciprocity ORPHA:449291
Chromosome 15Q11.2 Deletion Syndrome
Reduced social reciprocity, Ataxia OMIM:615656
Phelan-Mcdermid Syndrome
Broad-based gait, Reduced social reciprocity, Unsteady gait OMIM:606232
Rett Syndrome, Congenital Variant
Athetosis, Reduced social reciprocity OMIM:613454
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Reduced social reciprocity ORPHA:177907
Intellectual Developmental Disorder, X-Linked 98
Reduced social reciprocity, Ataxia OMIM:300912
47,Xyy Syndrome
Reduced social reciprocity ORPHA:8
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior ORPHA:1675
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Reduced social reciprocity OMIM:309520
Lead Poisoning
Reduced social reciprocity ORPHA:330015
Congenital Disorder Of Deglycosylation 2
Reduced social reciprocity OMIM:619775
Wagro Syndrome
Reduced social reciprocity OMIM:612469
African Trypanosomiasis
Difficulty walking, Akinesia, Gait disturbance, Choreoathetosis ORPHA:3385
Koolen-De Vries Syndrome Due To A Point Mutation
Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363958
Trichothiodystrophy
Gait ataxia, Reduced social reciprocity ORPHA:33364
7Q11.23 Microduplication Syndrome
Dysmetria, Unsteady gait, Reduced social reciprocity ORPHA:96121
Niemann-Pick Disease Type C
Progressive gait ataxia, Gait disturbance, Abnormal social behavior, Ataxia ORPHA:646
Mend Syndrome
Abnormal social behavior ORPHA:401973
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Gait ataxia, Reduced social reciprocity ORPHA:457359
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Falls, Tip-toe gait, Reduced social reciprocity, Ataxia OMIM:619475
Williams Syndrome
Gait imbalance, Dysmetria, Overfriendliness, Gait disturbance, Ataxia, Abnormal social behavior ORPHA:904
Adnp Syndrome
Reduced social reciprocity ORPHA:404448
Helsmoortel-Van Der Aa Syndrome
Reduced social reciprocity OMIM:615873
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Reduced social reciprocity ORPHA:293987
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Reduced social reciprocity ORPHA:353281
Chromosome 1P36 Deletion Syndrome, Distal
Reduced social reciprocity OMIM:607872
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Reduced social reciprocity ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Reduced social reciprocity ORPHA:353277
17Q11 Microdeletion Syndrome
Reduced social reciprocity ORPHA:97685
Mowat-Wilson Syndrome
Inability to walk, Broad-based gait, Reduced social reciprocity, Ataxia ORPHA:2152

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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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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