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Gene: Stim2 MGI:2151156

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Gene Summary

Name:
stromal interaction molecule 2
Synonyms:
N/A

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
cataract Stim2tm1.1(KOMP)Vlcg HET   Early adult 2.83×10-06
impaired pupillary reflex Stim2tm1.1(KOMP)Vlcg HET Early adult 5.43×10-06
abnormal auditory brainstem response Stim2tm1.1(KOMP)Vlcg HET   Early adult 3.04×10-07
increased startle reflex Stim2tm1.1(KOMP)Vlcg HET Early adult 9.85×10-07
increased lean body mass Stim2tm1.1(KOMP)Vlcg HET Early adult 4.69×10-05
decreased prepulse inhibition Stim2tm1.1(KOMP)Vlcg HET   Early adult 3.56×10-05
hyperactivity Stim2tm1.1(KOMP)Vlcg HET Early adult 1.26×10-05

Download data as:  TSV  XLS

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

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Forepaw

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Stim2 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 Stim2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Hearing impairment, Cataract, Optic disc pallor OMIM:165300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Hearing impairment, Abnormal antihelix morphology, Chorioretinal coloboma OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Hearing impairment, Rod-cone dystrophy OMIM:300719
Spastic Paraparesis And Deafness
Cataract, Hearing impairment, Tremor OMIM:312910
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight, Chorioretinal degeneration OMIM:616311
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Morm Syndrome
Retinal dystrophy, Hyperactivity, Retinal atrophy, Cataract, Truncal obesity, Aggressive behavior ORPHA:75858
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Nathalie Syndrome
Cataract, Sensorineural hearing impairment ORPHA:2663
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hearing impairment, Obesity, Aggressive behavior OMIM:620270
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Bardet-Biedl Syndrome 18
Cataract, Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Ravine Syndrome
Anorexia, Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hearing impairment, Hand tremor ORPHA:401830
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Stxbp1-Related Encephalopathy
Hyperactivity, Hypsarrhythmia, Tremor, EEG with focal epileptiform discharges, Dystonia, EEG with... ORPHA:599373
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Sensorineural hearing impairment, Developmental cataract OMIM:613076
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Cataract 42
Cataract, Developmental cataract OMIM:115900
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation, Hypsarrhythmia OMIM:619970
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity, Small for gestational age ORPHA:85288
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Sensorineural hearing impairment, Corneal... ORPHA:90654
Leber Congenital Amaurosis 2
Eye poking, Keratoconus, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood ves... OMIM:204100
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Aggressive behavior OMIM:301107
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Tremor, Aggressive behavior OMIM:300983
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Hypsarrhythmia, Impulsivity OMIM:617113
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Low-set ears, Motor stereotypy, Self-injurious behavior, EEG abnormality, ... OMIM:618718
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:239500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Retinopathy Of Prematurity
Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Abnormal retinal ... ORPHA:90050
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Leber Congenital Amaurosis 1
Eye poking, Keratoconus, Optic disc drusen, Sensorineural hearing impairment, Fundus atrophy, Att... OMIM:204000
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor, Small for gestational age OMIM:278780
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Nathalie Syndrome
Cataract, Hearing impairment OMIM:255990
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Abcd Syndrome
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito... OMIM:600501
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:611040
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Sensorineural hearing impairment, Corneal opacity, Posterior e... ORPHA:1473
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Abnormal antihelix morphology, Hearing impairment, Hypoplasia of the antihelix, Chorioretinal col... ORPHA:2489
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Sensorineural hearing impairment, Dystonia, Cataract, Choreo... OMIM:614932
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity dis... OMIM:619927
Leber Congenital Amaurosis 8
Macular coloboma, Eye poking, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fu... OMIM:613835
Dystonia-Deafness Syndrome 1
Generalized dystonia, Leg dystonia, Oculogyric crisis, Sensorineural hearing impairment, Dysphagi... OMIM:607371
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hearing impairment, Chorioretinal coloboma, Iris coloboma OMIM:120433
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Focal EEG discharges with secondary generalization, Abnormal fear-induced behavior, Hyp... ORPHA:3077
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Abnormal flash visual ev... OMIM:618195
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy OMIM:610156
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Geographic atrophy, Sensorineural hearing impairment, Abnormal auditory evoked ... OMIM:619260
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Astigmatism, Abnormal auditory evoked potentials, Optic ... OMIM:617523
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attached earlobe, Attenuation of reti... OMIM:616108
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior ORPHA:382
Phenylketonuria
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Cataract, Blue iri... OMIM:261600
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Subcapsular... OMIM:612674
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Failure to thrive, Delayed brainstem auditory evoked response conduction time, Exa... OMIM:616881
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Sensorineural hearing impairme... OMIM:310600
Stickler Syndrome, Type V
Cataract, Sensorineural hearing impairment, Vitreoretinopathy, Retinal detachment OMIM:614284
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Vitreous hemorrhage, Retinal neovascularization, Chorior... ORPHA:891
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Agitation, Astigmatism, Protruding ear, Myopic astigmatism, Retinal detachment, Mi... OMIM:152950
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, EEG with generalized epileptiform discharges,... OMIM:619827
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Iris hypopigmentation, Obesity, Inappropriate laughter, EEG abnormality ORPHA:411515
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Developmental cataract,... OMIM:620141
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Dystonia, Dysphagia, EEG abnormality, Aggressive behavior ORPHA:500180
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Leber Congenital Amaurosis
Keratoconus, Abnormal optic disc morphology, Hearing impairment, Abnormality of retinal pigmentat... ORPHA:65
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Bardet-Biedl Syndrome 9
Polydipsia, Astigmatism, Bone spicule pigmentation of the retina, Polyphagia, Obesity, Attenuatio... OMIM:615986
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Sensorineural hearing impairment, Cataract, Decrease... OMIM:162400
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Dystonia, C... ORPHA:309246
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Rieger anomaly, Sensorineural hearing impairment, Abnormal... OMIM:109120
Exudative Vitreoretinopathy 6
Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret... OMIM:616468
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Obes... OMIM:301013
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive behavior OMIM:615516
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Multifocal epileptiform discharges, Astigmatism, EEG with spike-wave ... ORPHA:168491
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c... ORPHA:414
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Cerebrotendinous Xanthomatosis
Optic atrophy, Agitation, Decreased nerve conduction velocity, Juvenile cataract, Resting tremor,... ORPHA:909
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tongue thrusting, Hyperactivity, Tremor, Recurrent hand flapping, Iris hypopigmentation, Obesity,... ORPHA:98794
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Iris atrophy, Heterochromia iridis, Chori... ORPHA:263479
Cataract 47
Cataract, Microcornea OMIM:612018
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Tremor, Abnormal auditory evoked poten... ORPHA:99027
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Obesity, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Optic nerve hypoplasia, Sensorineural hearing impairment, Ab... ORPHA:101085
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, EEG with focal spikes, Interictal epileptiform activity,... ORPHA:163681
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Chor... OMIM:612109
Cockayne Syndrome Type 1
Optic atrophy, Tremor, Absent brainstem auditory responses, Hearing impairment, Failure to thrive... ORPHA:90321
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Corneal scarring, Abnormal autonom... OMIM:256800
Angelman Syndrome
Optic atrophy, Astigmatism, Tongue thrusting, Hyperactivity, Keratoconus, Tremor, Recurrent hand ... ORPHA:72
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Bilater... OMIM:268315
Intermediate Uveitis
Band keratopathy, Cystoid macular edema, Optic neuritis, Vitreous snowballs, Vitreous floaters, V... ORPHA:279914
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Exaggerated startle response, Failure to thrive, Macrotia, EEG with gener... OMIM:617864
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Hyperactivity, Cachexia, Athetosis, Dystonia, Self-mutilation ORPHA:52503
Cockayne Syndrome B
Optic atrophy, Severe failure to thrive, Decreased nerve conduction velocity, Sensorineural heari... OMIM:133540
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529799
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, Exaggerated startle response, Macrotia, EEG abnormality OMIM:617281
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Arthrogryposis, Distal, Type 2A
Hearing impairment, Failure to thrive, Abnormal auditory evoked potentials, Small for gestational... OMIM:193700
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Low-set ears, Failure to thrive, Cataract, Ag... ORPHA:401973
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Microcornea, Corneal opacity, Persistent pupillary... ORPHA:91495
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... OMIM:609136
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Retinal nonattachment, Retinal fold,... OMIM:221900
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Agitation, Tremor, Exaggerated startle response OMIM:618056
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Hypsarrhythmia, Exaggerated startle response, Impulsivity, Dystonia, EE... OMIM:620423
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Sensorineural hearing impairmen... ORPHA:521426
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Weight loss, Hand tremor, Small for gestational age ORPHA:424
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Leiomyomatosis, Diffuse, With Alport Syndrome
Lenticonus, Sensorineural hearing impairment, Hearing impairment, Failure to thrive, Dysphagia, H... OMIM:308940
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Dysphagia, Exaggerated startle response OMIM:617301
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Schwannomatosis, Vestibular
Retinal hamartoma, Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opac... OMIM:101000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal dysplasia, Retinal detachment, Exaggerated startle response, Cataract OMIM:253800
Trisomy 10P
EEG with burst suppression, Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked pote... ORPHA:171929
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Anterior chamber cells, Depigmented fundus, Retinal hemorr... ORPHA:79098
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Sensorineural hearing impairment, Keratitis, Conjunctivitis, Cataract... OMIM:278730
Norrie Disease
Aplasia/Hypoplasia of the lens, Cachexia, Sensorineural hearing impairment, Corneal opacity, EEG ... ORPHA:649
Asparagine Synthetase Deficiency
Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, Failure to thrive, ... OMIM:615574
Tay-Sachs Disease
Optic atrophy, Tremor, Exaggerated startle response, Hearing impairment, Dystonia, Dysphagia, Che... ORPHA:845
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Low-set ears, Exaggerated startle response, Failure to thrive, Posteriorly rotated... OMIM:617527
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Resting tremor, Anter... ORPHA:67036
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormal pinna morphology, Dystonia, Exaggerated startle response ORPHA:438216
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sandhoff Disease
Orthostatic hypotension, Cherry red spot of the macula, Exaggerated startle response OMIM:268800
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Optic atrophy, Hyperactivity, Tremor, Blepharospasm, Phonic tics, Dys... OMIM:234200
Gm1 Gangliosidosis Type 1
Low-set ears, Exaggerated startle response, Hearing impairment, Macrotia, Cherry red spot of the ... ORPHA:79255
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Hyperactivity, Tremor, Dystonia, Choreoathetosis, Aggressive behavior OMIM:612716
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:620451
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Dysphagia, Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Dy... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Stereotypical hand wringing, Dystonia, Dysphagia, Optic disc pallor ORPHA:438213

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 Stim2

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 Stim2.

No publications found that use IMPC mice or data for Stim2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Stim2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Stim2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Stim2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Stim2tm44839(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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