Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
Synonyms:
N/A

IMPC Data Collections

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

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.

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 B4galt2 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 B4galt2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Lissencephaly, Hypoplas... ORPHA:300573
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Spastic gait, Impai... ORPHA:401815
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar atrophy, Abnorm... ORPHA:488635
Central Neurocytoma
Lethargy, Paresthesia, Pain insensitivity, Ataxia, Cerebral calcification, Abnormal lateral ventr... ORPHA:73256
Alg13-Cdg
Cognitive impairment, Abnormal lateral ventricle morphology ORPHA:324422
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar... OMIM:617751
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of... OMIM:300864
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,... ORPHA:2185
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Dystonia, Basal ganglia gliosis, Basal ganglia cysts, ... ORPHA:79243
Cach Syndrome
Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Cereb... ORPHA:135
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Microcephaly, Abnor... ORPHA:77299
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Difficulty walking, Bradykinesia, Cerebral cortical hemiatrophy, Dilation of lateral ve... ORPHA:306669
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Spina bifida occulta, Microcephaly, Dandy-Walker malformation, Dilat... OMIM:618736
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Cereb... OMIM:618606
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Dilated third ventricle, Diffuse cerebral atrophy, Scissor gait, Dilation of latera... ORPHA:363654
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Cerebellar hypoplasia, Colpocephaly OMIM:618731
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Abnormal cerebellar vermis morphology, Type II lissencephaly, Torticollis, Spastic atax... ORPHA:300570
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Chorea, Hypoplasia of the corpus callosum, Abnorm... ORPHA:178469
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Difficulty walking, Ventriculomegaly, Cerebella... ORPHA:572798
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormal lateral ventricle morphology OMIM:615280
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Dementia, Frontal cortical atrophy... ORPHA:2822
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral white matter hypoplasia... ORPHA:284417
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Frontotemporal dementia, Lewy bodies, Cerebral cortical atrophy, Progres... OMIM:607485
Slc35A2-Cdg
Inability to walk, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cer... ORPHA:356961
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Gait disturbance, Multifocal hyperintensit... ORPHA:488627
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly OMIM:615219
Severe X-Linked Intellectual Disability, Gustavson Type
Cerebellar hypoplasia, Dilated fourth ventricle, Microcephaly, Dandy-Walker malformation, Dilatio... ORPHA:3078
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Arnold-Chiari malformation, Microcephaly, Agenesis of cor... OMIM:609053
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebel... ORPHA:397715
Malan Overgrowth Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Episodic ataxia, Dilation of lateral ventricles ORPHA:420179
Cog5-Cdg
Truncal ataxia, Cerebral white matter atrophy, Cerebellar atrophy, Microcephaly, Diffuse cerebral... ORPHA:263487
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilation of lateral ventricles, Dysplastic corpus callosum, Hyperintensity of cerebral white matt... ORPHA:544488
Distal Monosomy 10Q
Cavum septum pellucidum, Cerebellar hypoplasia, Dilation of lateral ventricles, Ataxia, Unsteady ... ORPHA:96148
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Glutaric Acidemia I
Dystonia, Choreoathetosis, Dilation of lateral ventricles OMIM:231670
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Inability to walk, Colpocephaly, Ventriculomegaly, Agenesis of corpu... OMIM:618651
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Subependymal cysts, Dilation of lateral ventricles OMIM:610015
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Chorea, Ventriculomegaly, Cerebral calcificatio... ORPHA:1855
6Q Terminal Deletion Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebe... ORPHA:75857
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Abnormal cerebral white matter morphology, Ataxia, Abnormal corpus callo... ORPHA:457279
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Dysplastic corpus callo... OMIM:618820
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles ORPHA:85290
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Cerebellar vermis hypopla... OMIM:304050
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum,... ORPHA:1692
Choreoacanthocytosis
Cerebral cortical atrophy, Progressive inability to walk, Falls, Hyperactivity, Impaired vibrator... ORPHA:2388
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Cavum septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum... ORPHA:464738
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly ORPHA:261250
Khan-Khan-Katsanis Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Colpocephaly OMIM:618460
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Ventriculomegaly, Ataxia, Secondary microcephaly, Microcephaly, Dilation of la... OMIM:619229
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:618914
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia, Enlarged cereb... ORPHA:477993
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum OMIM:309801
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Septo-optic d... OMIM:301043
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Pachygyria, Dilation of lateral ventricles OMIM:263520
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Cerebral cortical atrophy, Microcephaly, Attention deficit hyperac... ORPHA:177907
Weaver Syndrome
Dilation of lateral ventricles, Absent septum pellucidum OMIM:277590
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Arnold-Chiari malformation, Arnold-Chiari type I malformation, Abnormal corpus callosum morpholog... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Arnold-Chiari malformation, Arnold-Chiari type I malformation, Abnormal corpus callosum morpholog... ORPHA:353277
Congenital Disorder Of Glycosylation, Type Iim
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Dilatio... OMIM:300896
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m... ORPHA:500150
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Arnold-Chiari... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Arnold-Chiari... ORPHA:261552
Genitopatellar Syndrome
Microcephaly, Agenesis of corpus callosum, Colpocephaly OMIM:606170
Chromosome 1P36 Deletion Syndrome
Pachygyria, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral cortical atr... OMIM:607872

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 B4galt2

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 B4galt2.

No publications found that use IMPC mice or data for B4galt2.

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MGI Allele Allele Type Produced
B4galt2tm255288(L1L2_Bact_P) Targeting vectors
B4galt2tm372999(L1L2_Bact_P) Targeting vectors

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