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Gene: B4galt2 MGI:1858493

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

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 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
Autosomal Recessive Spastic Paraplegia Type 66
Impaired vibration sensation in the lower limbs, Colpocephaly, Cerebellar hypoplasia, Difficulty ... ORPHA:401815
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:614019
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation, Dementia, Ataxia OMIM:615889
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Gait imbalance, Cerebella... ORPHA:488635
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Paresthesia ORPHA:73256
Leukoencephalopathy With Vanishing White Matter 5
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle, Progressive neurologic... OMIM:620315
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment ORPHA:324422
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Limb ataxia, Degeneration of anterior horn cells, Hypoplasia of t... OMIM:607596
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricle dilatation, Cognitive impairment, A... ORPHA:300573
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:618266
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Inability to walk, Pontocerebellar ... OMIM:617854
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Ataxia, Hydrocephalus, Choreoathetosis, Colpocephaly, Ventriculomegaly OMIM:616034
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Frontal lobe dementia, Lateral ventricle dilatation, Dementia, Gait disturbance, Abnormal upper m... OMIM:221770
Cach Syndrome
Cerebellar atrophy, Progressive neurologic deterioration, Dysmetria, Limb ataxia, Abnormal pons m... ORPHA:135
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Lateral ventricle dilatation ORPHA:77299
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation, Steppage gait, Distal sensory impai... OMIM:256850
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia, Lateral ventricle dilatat... OMIM:608629
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... OMIM:618736
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Cerebellar gliosis, Partial agenesis of the corpus callosum, Lateral v... ORPHA:79243
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Inability to walk, Gait ataxia, Lateral ven... OMIM:618606
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos... OMIM:616602
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal dentate nucleus m... OMIM:619517
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia OMIM:618731
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar ... OMIM:617751
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Cerebellar... OMIM:613154
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Scissor gait ORPHA:363654
Adams-Oliver Syndrome 2
Retrocerebellar cyst, Hydrocephalus, Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:614219
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Dysmetria, At... ORPHA:572798
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia ORPHA:284417
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Spina bifida o... OMIM:618291
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar hypoplasia, Dandy-Walker malfo... ORPHA:3078
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ataxia, Ventriculomegaly OMIM:619833
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Lateral ventricle dilatation OMIM:615716
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Lateral ventricle dilatation, Tip-toe gait, Cerebellar hypoplasia... ORPHA:565624
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Cerebellar vermis hypoplasia, Inability to walk, Partial ag... ORPHA:300570
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Ataxia, Inability to walk, Lateral ventricle dilatation, Dementia, Gait dis... ORPHA:2822
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Malan Overgrowth Syndrome
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morp... ORPHA:397715
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly OMIM:617397
Fanconi Anemia, Complementation Group I
Colpocephaly, Chiari malformation, Agenesis of corpus callosum OMIM:609053
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Memory impairment, Lateral ventricle dilatation, Progressive language deterioration, Frontotempor... OMIM:607485
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Slc35A2-Cdg
Cerebellar atrophy, Inability to walk, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Gait disturbance, Gait imbalance, Diffi... ORPHA:488627
Glutaric Acidemia I
Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Cog5-Cdg
Cerebellar atrophy, Lateral ventricle dilatation, Truncal ataxia ORPHA:263487
Halperin-Birk Syndrome
Inability to walk, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopro... OMIM:618651
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Tip-toe gait, Dilated thir... OMIM:617296
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Distal Deletion 10Q
Ataxia, Unsteady gait, Lateral ventricle dilatation, Cerebellar hypoplasia, Attention deficit hyp... ORPHA:96148
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Chromosome 6Q24-Q25 Deletion Syndrome
Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished ability to concentr... OMIM:612863
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Attention deficit hyperactivity disorde... ORPHA:544488
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Hydrocephalus, Chiari type I malformation, Lateral ventricle dilatation, At... OMIM:619575
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Inability to walk, Colpocephaly, Cerebellar vermis hypoplasia, Ataxia OMIM:620083
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Athetosis, Colpocephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... OMIM:614866
Spondyloenchondrodysplasia
Chorea, Abnormal lateral ventricle morphology, Ventriculomegaly ORPHA:1855
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ataxia, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly OMIM:619229
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Cognitive impairment ORPHA:2148
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:620113
Mosaic Trisomy 1
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebell... ORPHA:1692
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Holoprosencephaly, Attention defic... OMIM:618820
6Q Terminal Deletion Syndrome
Colpocephaly, Cerebellar hypoplasia, Dysmetria, Gait ataxia ORPHA:75857
Gabriele-De Vries Syndrome
Waddling gait, Lateral ventricle dilatation, Tip-toe gait, Attention deficit hyperactivity disorder OMIM:617557
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Partial agenesis of the corpus callosum, Choroid plex... OMIM:304050
Khan-Khan-Katsanis Syndrome
Colpocephaly, Cerebellar vermis hypoplasia, Ventriculomegaly OMIM:618460
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Ventriculomegaly OMIM:619479
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Enlarged cerebellum ORPHA:477993
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation OMIM:618367
Holoprosencephaly 13, X-Linked
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:301043
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Agenesis of corpus callosum, Colpocephaly OMIM:309801
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Progressive neurologic deterioration... OMIM:210710
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia OMIM:619869
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Cerebellar vermis hypoplasia OMIM:263520
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Partial agenesis of the corpus callosum, Hydrocephalus, Chiari type I malform... OMIM:270400
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Choreoacanthocytosis
Impaired vibratory sensation, Bradyphrenia, Short attention span, Chorea, Mental deterioration, L... ORPHA:2388
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Chiari type I malformation, Abnormal lateral ventricle morphology, Chiari malformation, Social an... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Chiari type I malformation, Abnormal lateral ventricle morphology, Chiari malformation, Social an... ORPHA:353277
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:300896
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... ORPHA:261537
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170

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
B4galt2tm372999(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
B4galt2tm255288(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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