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Gene: Colec12 MGI:2152907

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Gene Summary

Name:
collectin sub-family member 12
Synonyms:
CL-P1,  SRCL,  Scara4

Order Alleles

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
hyperactivity Colec12em1(IMPC)Mbp HOM   Early adult 6.42×10-05
decreased prepulse inhibition Colec12em1(IMPC)Mbp HOM   Early adult 1.23×10-06
increased startle reflex Colec12em1(IMPC)Mbp HOM Early adult 4.07×10-08
small spleen Colec12em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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

50 Images

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X-ray

XRay Images Whole Body Lateral Orientation

22 Images

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Human diseases caused by Colec12 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 Colec12 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Hyperactivity, Limb dystonia, Aggressive behavior OMIM:620270
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hepatomegaly, Hyperactivity, Dystonia OMIM:615924
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior ORPHA:3077
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Agitation, Truncal titubation OMIM:618056
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Mirage Syndrome
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Tay-Sachs Disease
Exaggerated startle response, Tremor, Dysphagia, Hepatosplenomegaly, Dystonia, Laryngeal dystonia ORPHA:845
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Pearson Syndrome
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... ORPHA:699
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Dystonia ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Histidinemia
Hyperactivity ORPHA:2157
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia ORPHA:521426
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Dysphagia OMIM:617527
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Dysphagia OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Stereotypical hand wringing, Dysphagia, Dystonia, Anemia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522

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 Colec12

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 Colec12.

No publications found that use IMPC mice or data for Colec12.

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
Colec12tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Colec12tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Colec12em1(IMPC)Mbp Intra-exon deletion Mice, Tissue

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