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Gene: Shisa2 MGI:2444716

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
shisa family member 2
Synonyms:
MAd2,  9430059P22Rik,  Tmem46,  shisa,  mShisa

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Shisa2 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 Shisa2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leptin Receptor Deficiency
Short stature, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, A... OMIM:614963
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Proportionate short stature, Postna... ORPHA:54595
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Combined Oxidative Phosphorylation Deficiency 51
Growth delay, Intrauterine growth retardation, Severe short stature, Focal T2 hyperintense thalam... OMIM:619057
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature ORPHA:314621
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... OMIM:618160
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion OMIM:618929
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Central Precocious Puberty In Male
Pituitary microadenoma, Hypothalamic hamartoma ORPHA:649929
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy ORPHA:2822
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology ORPHA:68
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Hypothalamic hamartoma OMIM:619908
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Short stature, Hypothalamic hamartoma OMIM:241800
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Abnormality of the diencephalon ORPHA:2570
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Oculoskeletodental Syndrome
Abnormal thalamus morphology, Short stature ORPHA:557003
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Cach Syndrome
Growth delay, T2 hypointense thalamus, Intrauterine growth retardation ORPHA:135
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus ORPHA:1947
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Abnormal thalamus morphology ORPHA:300570
Hydranencephaly
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... ORPHA:2177
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Short stature, Delayed puberty ORPHA:2959
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Short stature ORPHA:2720
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal thalamic MRI signal intensity ORPHA:485421
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity ORPHA:254930
Pallister-Hall Syndrome
Short stature, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma, Neo... OMIM:146510
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume ORPHA:370959
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology ORPHA:79139
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Short stature, Decreased thalamic volume ORPHA:168577
Microphthalmia, Syndromic 3
Postnatal growth retardation, Short stature, Anterior pituitary hypoplasia, Hypothalamic hamartoma OMIM:206900
Rhombencephalosynapsis
Fusion of the left and right thalami ORPHA:59315
Leigh Syndrome
Growth delay, Intrauterine growth retardation, Abnormal thalamic MRI signal intensity ORPHA:506
Orofaciodigital Syndrome Type 6
Growth delay, Short stature, Hypothalamic hamartoma ORPHA:2754
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Congenital Disorder Of Deglycosylation 2
Hypothalamic hamartoma OMIM:619775
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity ORPHA:83597
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Orofaciodigital Syndrome Vi
Short stature, Hypothalamic hamartoma OMIM:277170
Aceruloplasminemia
Abnormal thalamic MRI signal intensity ORPHA:48818
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity ORPHA:845
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami OMIM:619306
Orofaciodigital Syndrome I
Short stature, Hypothalamic hamartoma OMIM:311200
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Pallister-Hall Syndrome
Short stature, Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Pituitary hypothy... ORPHA:672
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism OMIM:610828
Williams Syndrome
Abnormality of the diencephalon, Short stature ORPHA:904
Norrie Disease
Abnormality of the diencephalon, Delayed puberty ORPHA:649

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 Shisa2

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 Shisa2.

No publications found that use IMPC mice or data for Shisa2.

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MGI Allele Allele Type Produced
Shisa2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Shisa2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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