Gene Summary

Name:
stromal interaction molecule 2
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased lean body mass Stim2tm1.1(KOMP)Vlcg HET Early adult 4.69×10-05
cataract Stim2tm1.1(KOMP)Vlcg HET   Early adult 1.53×10-05
hyperactivity Stim2tm1.1(KOMP)Vlcg HET Early adult 1.02×10-05
impaired pupillary reflex Stim2tm1.1(KOMP)Vlcg HET Early adult 1.34×10-05
abnormal auditory brainstem response Stim2tm1.1(KOMP)Vlcg HET   Early adult 3.04×10-07
decreased prepulse inhibition Stim2tm1.1(KOMP)Vlcg HET   Early adult 7.24×10-05
increased startle reflex Stim2tm1.1(KOMP)Vlcg HET Early adult 9.85×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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 1.18% (6 of 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Auditory Brain Stem Response

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

8 Images

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, Optic disc pallor, Tremor, Cataract, Hearing impairment OMIM:165300
Spastic Paraparesis And Deafness
Tremor, Hearing impairment, Cataract OMIM:312910
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Cataract, Rod-cone dystrophy OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Hearing impairment, Cataract, Chorioretinal coloboma OMIM:274205
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Chorioretinal degeneration, Hyperactivity OMIM:616311
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Cataract 29
Cataract OMIM:115800
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Cataract, Childhood-onset truncal obesity, Retinal dystrophy OMIM:610156
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Nathalie Syndrome
Sensorineural hearing impairment, Cataract ORPHA:2663
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Morm Syndrome
Hyperactivity, Truncal obesity, Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Cherubism
Optic neuropathy, Macular scar, Marcus Gunn pupil OMIM:118400
Bardet-Biedl Syndrome 18
Obesity, Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Immunodeficiency 8
Hyperactivity OMIM:615401
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 69
Hearing impairment, Cataract, Hand tremor ORPHA:401830
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Decreased body weight, Hyperactivity OMIM:608747
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract, Small for gestational age ORPHA:85288
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Stickler Syndrome Type 2
Sensorineural hearing impairment, Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abn... ORPHA:90654
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Coats Disease
Abnormal retinal vascular morphology, Abnormal macular morphology, Abnormal anterior chamber morp... ORPHA:190
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Cataract, Rod-cone... OMIM:613801
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Xeroderma Pigmentosum, Complementation Group G
Tremor, Cataract, Small for gestational age OMIM:278780
Abcd Syndrome
Large for gestational age, Abnormal auditory evoked potentials, Total intestinal aganglionosis, H... OMIM:600501
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Abnormal antihelix morphology, Hypoplasia of the antihelix, Cataract, Hearing impairment, Chorior... ORPHA:2489
Nathalie Syndrome
Hearing impairment, Cataract OMIM:255990
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Corneal opacity, Retinal detachment, Posterior embryotoxon, Opt... ORPHA:1473
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Abnormal pinna morphology, Hyperactivity OMIM:300983
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Hypsarrhythmia OMIM:619970
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharg... ORPHA:88616
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Hyperactivity OMIM:619470
Combined Oxidative Phosphorylation Deficiency 13
Sensorineural hearing impairment, Decreased nerve conduction velocity, Choreoathetosis, Cataract,... OMIM:614932
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hearing impairment, Hyperactivity OMIM:248510
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia OMIM:617113
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Dystonia OMIM:615924
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Retinal degeneration, Attenuation of retinal blood vessels, Geo... OMIM:619260
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Attenuation of retinal blood vessels, Pigmentary retinopathy, F... OMIM:204000
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hyperactivity OMIM:274270
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Hyperactivity OMIM:618090
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Sensorineural hearing impairment, Subcapsular cataract, Decreased nerve conduction velocity, Rod-... OMIM:612674
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... OMIM:193230
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity OMIM:239500
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormal optic disc morphology, Heari... ORPHA:65
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism OMIM:619927
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Low-set ears, EEG abnormality, Hyperactivity OMIM:618718
Dystonia, Juvenile-Onset
Sensorineural hearing impairment, Leg dystonia, Small for gestational age, Oculogyric crisis, Cat... OMIM:607371
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Choreoathetosis, Hyperactivity, Dystonia OMIM:612716
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Tremor, Atte... ORPHA:206443
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Rieger anomaly, Abnormal... OMIM:109120
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity ORPHA:2382
Rasmussen Subacute Encephalitis
EEG with focal spikes, Hyperactivity, Continuous spike and waves during slow sleep, Hemidystonia,... ORPHA:1929
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Protruding ear, Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism... OMIM:152950
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Resting tremor, Tremor, Focal EEG discharges with secondary generalization, Obesity ORPHA:3077
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Sensorineural hearing impairment, Decreased sensory nerve conduction velocity, Hand tremor, Decre... OMIM:162400
Phenylketonuria
Attention deficit hyperactivity disorder, Cataract, Hyperactivity, Blue irides OMIM:261600
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Optic Atrophy 11
Facial diplegia, Hyperactivity, Optic atrophy, Macrotia, Hearing impairment OMIM:617302
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Hyperactivity, Continuous spike and waves during slow sleep, EEG w... ORPHA:98818
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Chorioretinal... ORPHA:414
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Cataract, Progressive sensorineural hearing impairment ORPHA:3233
Norrie Disease
Sensorineural hearing impairment, Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal... OMIM:310600
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis ORPHA:382
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, EEG abnormality, Hyperactivity, Iris hypopigmentation ORPHA:411515
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal posterior eye segment morphology, Abnormal corn... ORPHA:67043
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
Myoclonic-Astatic Epilepsy
Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, EEG with irregular ... ORPHA:1942
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Cataract 47
Cataract, Microcornea OMIM:612018
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Failure to thrive, Hearing impairment, Hyperactivity ORPHA:369939
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Obesity, Cataract, Rod-cone dystrophy OMIM:601794
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Attention defi... OMIM:301013
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Oculoauricular Syndrome
Absent earlobe, Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Chorior... OMIM:612109
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Opisthotonus, EEG with polyspike wave complexes, Continuous spike and waves during... OMIM:619913
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... ORPHA:99027
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Pigmentary retinopathy, Optic atrophy, Tr... ORPHA:90321
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Cln5 Disease
EEG with focal spikes, Hyperactivity, EEG with spike-wave complexes, Tremor, Multifocal epileptif... ORPHA:228360
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Sensorineural hearing impairment, Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Cataract,... OMIM:268315
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Infantile Krabbe Disease
Failure to thrive, Decreased nerve conduction velocity, Opisthotonus, Cherry red spot of the macu... ORPHA:206436
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Chorioretinal hypopigmentat... OMIM:106210
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Abnormal... ORPHA:909
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Epiretinal membrane, Vitr... ORPHA:279914
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... ORPHA:101085
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Hyperactivity, EEG with spike-wave complexes, Retinal degenera... ORPHA:168491
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Hyperactivity, Abnormal autonomic nervous system... OMIM:256800
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
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Cockayne Syndrome B
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Decreased nerve c... OMIM:133540
Arthrogryposis, Distal, Type 2A
Failure to thrive, Hearing impairment, Abnormal auditory evoked potentials, Small for gestational... OMIM:193700
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response, Hypsarrhythmia, Macrotia OMIM:615574
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Cachexia, Athetosis, Dystonia ORPHA:52503
Cockayne Syndrome A
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Decreased nerve c... OMIM:216400
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG abnormality, Hyperactivity, EEG with abnormally slow frequencies, Tremor, Iris hypopigmentati... ORPHA:98794
Idiopathic Panuveitis
Cystoid macular edema, Epiretinal membrane, Vitreous floaters, Choroidal neovascularization, Cata... ORPHA:280921
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Angelman Syndrome
EEG abnormality, Hyperactivity, Blue irides, Limb tremor, Obesity OMIM:105830
Mend Syndrome
Failure to thrive, Hyperactivity, Cataract, Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract, Anisocoria OMIM:619649
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis OMIM:268100
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Low-set, posteriorly rotated ears OMIM:618598
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Xeroderma Pigmentosum, Complementation Group D
Sensorineural hearing impairment, Keratitis, Corneal neovascularization, Choreoathetosis, Catarac... OMIM:278730
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia ORPHA:79330
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Hand tremor, Small for gestational age ORPHA:424
Legius Syndrome
Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivity disorder, Cataract, Hearing... ORPHA:137605
Trisomy 10P
EEG with focal spikes, Small for gestational age, Low voltage EEG, EEG with burst suppression, Ab... ORPHA:171929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Retinal detachment, Optic atrophy, Cataract, Retinal dysplasia OMIM:253800
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Resting tremor, Cerulean cataract, Posterior subcapsular cataract, Op... ORPHA:67036
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Plaa-Associated Neurodevelopmental Disorder
Sensorineural hearing impairment, Failure to thrive, Exaggerated startle response, Low-set, poste... ORPHA:521426
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Hand tremor ORPHA:99819
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Norrie Disease
Abnormal helix morphology, Optic atrophy, Cataract, Ectopia lentis, Abnormal pupil morphology, Ab... ORPHA:649
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Cherry red spot of the macula, Optic atrophy, T... ORPHA:845
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, External ear malformation, Exaggerated startle response ORPHA:438216
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Early Infantile Epileptic Encephalopathy
Failure to thrive, EEG abnormality, Hyperactivity, EEG with spike-wave complexes, EEG with burst ... ORPHA:1934
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Exaggerated startle response, Optic atrophy, Low-set ears, Posteriorly rotated... OMIM:617527
Gm1 Gangliosidosis Type 1
Low-set ears, Exaggerated startle response, Cherry red spot of the macula, Macrotia, Hearing impa... ORPHA:79255
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Retinal degeneration, Hyperactivity, Pigmentary retinopathy, Optic atrophy, Tremor... OMIM:234200
Histidinemia
Hyperactivity ORPHA:2157
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Microtia, Small earlobe, Attention deficit hyperactivity disorder, ... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia 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.

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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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