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Gene: Tnrc6b MGI:2443730

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Gene Summary

Name:
trinucleotide repeat containing 6b
Synonyms:
2700090M07Rik,  A730065C02Rik,  D230019K20Rik

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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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Tnrc6bem1(IMPC)Bay HOM Early adult 1.43×10-05
decreased startle reflex Tnrc6bem1(IMPC)Bay HOM   Early adult 2.60×10-05
decreased bone mineral density Tnrc6bem1(IMPC)Bay HOM Early adult 1.68×10-06
decreased prepulse inhibition Tnrc6bem1(IMPC)Bay HOM Early adult 0.00
decreased body length Tnrc6bem1(IMPC)Bay HOM Early adult 7.39×10-10
decreased thigmotaxis Tnrc6bem1(IMPC)Bay HOM Early adult 9.87×10-05
decreased bone mineral content Tnrc6bem1(IMPC)Bay HOM Early adult 9.03×10-06

Download data as:  TSV  XLS

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

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 Tnrc6b 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 Tnrc6b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Global Developmental Delay With Speech And Behavioral Abnormalities
Joint hypermobility, Attention deficit hyperactivity disorder OMIM:619243

The table below shows human diseases predicted to be associated to Tnrc6b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Miscarriage, Infertility OMIM:136580
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Ichthyosis, Congenital, Autosomal Recessive 4B
Neonatal death, Death in infancy, Failure to thrive OMIM:242500
Cortisone Reductase Deficiency 1
Obesity, Infertility, Oligomenorrhea OMIM:604931
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Leukodystrophy, Hypomyelinating, 13
Irritability, Joint contracture, Exaggerated startle response OMIM:616881
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... OMIM:617301
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Joint contracture, Exaggerated startle response OMIM:617864
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Agitation, Truncal titubation OMIM:618056
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Tremor, Depression, Dysphagia, Limited knee extension, Ma... ORPHA:845
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Contractures of the large ... ORPHA:521426
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response, Dysphagia OMIM:617527
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture OMIM:253800
Sandhoff Disease
Exaggerated startle response OMIM:268800
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Exaggerated startle response, Dystonia, Osteoporosis, Dysphagia, Stereo... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder, Dysphagia, Abnormal repet... OMIM:619522
Global Developmental Delay With Speech And Behavioral Abnormalities
Joint hypermobility, Attention deficit hyperactivity disorder OMIM:619243

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 Tnrc6b

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 Tnrc6b.

No publications found that use IMPC mice or data for Tnrc6b.

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
Tnrc6bem1(IMPC)Bay Exon Deletion Mice
Tnrc6btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tnrc6btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tnrc6btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tnrc6btm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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