banner
Genes Phenotypes Help, News, Blog

Gene: Calu MGI:1097158

Log in to follow

Gene Summary

Name:
calumenin
Synonyms:
9530075H20Rik

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
abnormal embryo size Caluem1(IMPC)Tcp HOM E12.5 0.00
abnormal craniofacial morphology Caluem1(IMPC)Tcp HOM E12.5 0.00
preweaning lethality, complete penetrance Caluem1(IMPC)Tcp HOM   Early adult 0.00
abnormal embryo size Caluem1(IMPC)Tcp HOM E9.5 0.00
abnormal midbrain morphology Caluem1(IMPC)Tcp HOM E12.5 0.00
abnormal abdominal wall morphology Caluem1(IMPC)Tcp HOM E12.5 0.00
embryonic growth retardation Caluem1(IMPC)Tcp HOM E9.5 0.00
abnormal hindbrain morphology Caluem1(IMPC)Tcp HOM E12.5 0.00
embryonic growth retardation Caluem1(IMPC)Tcp HOM E12.5 0.00
small lymph nodes Caluem1(IMPC)Tcp HET Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

96 Images

View images
Eye Morphology

Images Ophthalmoscopy

101 Images

View images
Gross Morphology Embryo E12.5

Images

22 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
Gross Morphology Embryo E9.5

Images

14 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Calu 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 Calu by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Growth delay OMIM:300804
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Joubert Syndrome 22
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis OMIM:615665
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Short stature ORPHA:166024
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation OMIM:614465
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Shor... ORPHA:1532
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Intrauterine gro... OMIM:614815
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:617127
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Meningocele, Anencephaly, Molar tooth sign on MRI, ... OMIM:611134
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... OMIM:610688
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Joubert Syndrome 7
Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Slc35A2-Cdg
Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Atrophy/Degeneration affecting t... ORPHA:356961
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Coach Syndrome 2
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619111
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly OMIM:614120
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele OMIM:612285
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Pontocerebellar Hypoplasia Type 10
Growth delay, Abnormal brainstem morphology ORPHA:411493
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Meningocele, Growth d... OMIM:614424
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature OMIM:619185
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... ORPHA:370959
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Inguinal hernia OMIM:607131
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Severe short stature, Infancy onset short-trunk short stature, Abnormal midbrain... ORPHA:444072
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of the brainstem, D... OMIM:608091
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... OMIM:216360
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital myelo... OMIM:213300
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... OMIM:619306
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Short stature, Rhizomelic leg shortening, ... ORPHA:397715
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Sho... OMIM:619476
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dandy... ORPHA:163961
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia ORPHA:2318
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology ORPHA:467166
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia ORPHA:220497
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Inguinal hernia OMIM:617563
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia ORPHA:220493
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... ORPHA:370997
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Japanese Encephalitis
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology ORPHA:79139
Duplication Of The Pituitary Gland
Encephalocele, Short stature, Abnormal midbrain morphology ORPHA:314621
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Encephalocele, Rhizomelia, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Wal... OMIM:616300
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, ... OMIM:616546
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain, Short stature, Cerebellar hypoplasia OMIM:616202
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature, Growth delay ORPHA:2754
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia, Short stature OMIM:277170
Meckel Syndrome, Type 1
Omphalocele, Occipital encephalocele, Dilated fourth ventricle, Large placenta, Anencephaly, Chia... OMIM:249000
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Disproportionate short-limb short s... OMIM:619479
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Short stature ORPHA:2720
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Cerebellar dysplasia ORPHA:8
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology ORPHA:88619
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:251937
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Abnormal midbrain morphology, Delayed puberty ORPHA:293987
Wilson Disease
Face of the giant panda sign OMIM:277900
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Molar tooth sign on... OMIM:615948
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Dilated fourth ventricle, Dandy-Walker malformation ORPHA:434179
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Birth length less than 3rd percentile, Intrauterine growth retardation, Abnormal brainstem morpho... ORPHA:464311
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Semilobar Holoprosencephaly
Growth delay, Neural tube defect, Abnormal brainstem morphology, Short stature ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Neural tube defect, Abnormal brainstem morphology, Short stature ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Neural tube defect, Abnormal brainstem morphology, Short stature ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Neural tube defect, Abnormal brainstem morphology, Short stature ORPHA:93924

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 Calu

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 Calu.

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

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
Caluem1(IMPC)Tcp Exon Deletion Mice
Calutm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Calutm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Calutm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter