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
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Impaired vibration sensation in the lower limbs, Cerebellar hypoplasia, Colpo... ORPHA:401815
Lissencephaly 4
Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Leukoencephalopathy, Progressive, With Ovarian Failure
Dementia, Cerebellar atrophy, Lateral ventricle dilatation, Ataxia OMIM:615889
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Cerebella... ORPHA:488635
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Paresthesia, Hydrocephalus, Ataxia ORPHA:73256
Leukoencephalopathy With Vanishing White Matter 5
Progressive neurologic deterioration, Lateral ventricle dilatation, Dilated third ventricle, Loss... OMIM:620315
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment ORPHA:324422
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Lateral ventricle dilatation, Limb ataxia, Cerebellar hypoplasia, Ataxia,... OMIM:607596
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus call... ORPHA:300573
Pontocerebellar Hypoplasia, Type 12
Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:618266
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Lateral ventricle dilatation, Inability to walk, Short attention span, Pontocer... OMIM:617854
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Memory impairment, Lateral ventricle dilatation, Abnormal upper motor neuron morphology, Frontal ... OMIM:221770
Cach Syndrome
Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis atrophy, Limb ataxia, Dysmetr... ORPHA:135
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Cerebellar atrophy, Colpocephaly, Hydrocephalus, Ataxia, Choreoathetosis OMIM:616034
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Microphthalmia-Brain Atrophy Syndrome
Cerebellar vermis atrophy, Abnormal pons morphology, Lateral ventricle dilatation ORPHA:77299
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo... OMIM:608629
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Spina bifida o... OMIM:618736
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Inability to ... OMIM:618606
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Partial agenesis of the corpus... ORPHA:79243
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occul... OMIM:616602
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d... OMIM:619517
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cerebellar hypoplasia, Colpocephaly OMIM:618731
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Abnormal cerebellum morphology, Steppage gait, Distal sensory impai... OMIM:256850
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Lateral ventricle dilatation ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... 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, Dilated third ventricle, Lateral ventricle dilatation, Hypoplasia of the pons, ... OMIM:613154
X-Linked Parkinsonism-Spasticity Syndrome
Scissor gait, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Adams-Oliver Syndrome 2
Cerebellar hypoplasia, Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatation OMIM:614219
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventricle dilatation,... ORPHA:572798
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplas... OMIM:618291
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Lateral ventricle dilatation ORPHA:284417
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Severe X-Linked Intellectual Disability, Gustavson Type
Cerebellar hypoplasia, Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malfo... ORPHA:3078
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Hydrocephalus, Ataxia OMIM:619833
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Lateral ventricle dilatation OMIM:615716
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Lateral ventricle dilatation, Abnormal cerebellum morphology, Cerebellar hypoplasia... ORPHA:565624
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Inability to walk, Short attention sp... ORPHA:300570
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Memory impairment, Lateral ventricle dilatation, Inability to walk, Short a... ORPHA:2822
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Episodic ataxia ORPHA:420179
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:620156
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Dysgenesis of the cerebe... ORPHA:397715
Pseudo-Torch Syndrome 2
Cerebellar hypoplasia, Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Fanconi Anemia, Complementation Group I
Colpocephaly, Chiari malformation, Agenesis of corpus callosum OMIM:609053
Slc35A2-Cdg
Inability to walk, Cerebellar atrophy, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Progressive language deterioration, Memory impairment, Lateral ventricle dilatation, Frontotempor... OMIM:607485
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Gait imbalance, Dysplastic co... ORPHA:488627
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation, Choreoathetosis OMIM:231670
Cog5-Cdg
Truncal ataxia, Cerebellar atrophy, Lateral ventricle dilatation ORPHA:263487
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... OMIM:615219
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Lateral ventricle dilatation, Tip-toe gait, Spastic gait, Partial agenes... OMIM:617296
Halperin-Birk Syndrome
Ventriculomegaly, Semilobar holoprosencephaly, Inability to walk, Agenesis of corpus callosum, Co... OMIM:618651
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Atten... ORPHA:96148
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Short attention span, Agenesis of corpus callosum, Diminished abili... OMIM:612863
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Dysplastic corpus callosum, Attention defi... 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
Dilated third ventricle, Lateral ventricle dilatation, Short attention span, Chiari type I malfor... OMIM:619575
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Cerebellar vermis atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia... OMIM:614866
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Inability to walk, Cerebellar vermis hypoplasia, Colpocephaly, Ataxia OMIM:620083
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Spondyloenchondrodysplasia
Ventriculomegaly, Chorea, Abnormal lateral ventricle morphology ORPHA:1855
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, 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, Colpocephaly, Agenesis of corpus callosum OMIM:620113
Mosaic Trisomy 1
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Agenesis of co... ORPHA:1692
Genitourinary And/Or Brain Malformation Syndrome
Chiari malformation, Agenesis of corpus callosum, Dysplastic corpus callosum, Attention deficit h... OMIM:618820
6Q Terminal Deletion Syndrome
Cerebellar hypoplasia, Colpocephaly, Gait ataxia, Dysmetria ORPHA:75857
Gabriele-De Vries Syndrome
Attention deficit hyperactivity disorder, Tip-toe gait, Lateral ventricle dilatation, Waddling gait OMIM:617557
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly ORPHA:261250
Aicardi Syndrome
Cerebellar vermis hypoplasia, Dilated third ventricle, Chiari malformation, Lateral ventricle dil... OMIM:304050
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Colpocephaly, Ventriculomegaly OMIM:618460
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:617260
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Ventriculomegaly, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation OMIM:619479
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Inability to walk, Colpoc... OMIM:620371
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
Neurocardiofaciodigital Syndrome
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Colpocephaly, Alobar holoprosencephaly, Agenesis of corpus callosum OMIM:301043
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Agenesis of corpus callosum 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, Lateral ventricle dilatation, Partial agenesis of the corpus callos... OMIM:210710
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Lateral ventricle dilatation OMIM:263520
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Chiari type I malformation, Colpocephaly, Hydrocephalus, Partial agenesis of ... OMIM:270400
Choreoacanthocytosis
Impaired vibratory sensation, Mental deterioration, Falls, Lateral ventricle dilatation, Chorea, ... ORPHA:2388
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
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
Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:300896
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Broad-based gait, Impaired pain sensation, Lateral ventricle dilata... 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.

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

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