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
Impaired vibration sensation in the lower limbs, Cerebellar hypoplasia, Difficulty walking, Spast... ORPHA:401815
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Cerebellar hypoplasia OMIM:614019
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Cerebellar hypoplasia, Gait ataxia, Cerebellar atrophy, Abnormal lateral ventricl... ORPHA:488635
Central Neurocytoma
Hydrocephalus, Pain insensitivity, Ataxia, Paresthesia, Abnormal lateral ventricle morphology ORPHA:73256
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment ORPHA:324422
Polymicrogyria Due To Tubb2B Mutation
Cognitive impairment, Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar atrophy, A... ORPHA:300573
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Cach Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Limb ataxia, Dysmetria, Cognitive impairment... ORPHA:135
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Abnormal pons morphology, Cerebellar vermis atrophy ORPHA:77299
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia OMIM:618731
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Cerebellar gliosis, Partial agenesis of the corpus callosum, Lateral v... ORPHA:79243
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking ORPHA:306669
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Scissor gait ORPHA:363654
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Dysmetria, Dilated fourth ventricle, Athetosis, Lateral ventricle dilatation, Cerebellar ... ORPHA:572798
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Cerebellar hypoplasia, Dandy-Walker malfo... ORPHA:3078
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Ventriculomegaly, Ataxia OMIM:619833
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Abnormal cerebellum morphology, Tip-toe gait, Cerebellar hypoplasia, Lateral ... ORPHA:565624
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Episodic ataxia ORPHA:420179
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Inability to walk, Mental deterioration, Memory impairment, Gait disturbance, Lateral ven... ORPHA:2822
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Colpocephaly, Chiari malformation OMIM:609053
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Abnormal cerebellum morphology, Colpocephaly, Dilated thi... ORPHA:397715
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia ORPHA:284417
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Normal pressure hydrocephalus, Abnormal cerebellar vermis morphology, Cerebell... ORPHA:300570
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait imbalance, Dysplastic corpus callosum, Gait disturbance, Lateral ventricle dilatation, Diffi... ORPHA:488627
Halperin-Birk Syndrome
Inability to walk, Ventriculomegaly, Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpu... OMIM:618651
Cog5-Cdg
Lateral ventricle dilatation, Truncal ataxia, Cerebellar atrophy ORPHA:263487
Slc35A2-Cdg
Lateral ventricle dilatation, Dandy-Walker malformation, Inability to walk, Cerebellar atrophy ORPHA:356961
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Distal Monosomy 10Q
Ataxia, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Spina bifida occulta, Later... ORPHA:96148
Autosomal Dominant Non-Syndromic Intellectual Disability
Lateral ventricle dilatation, Chorea ORPHA:178469
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Ventriculomegaly, Chorea ORPHA:1855
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Abnormal cerebellar vermis morphology, Later... ORPHA:544488
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Cognitive impairment ORPHA:2148
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation, Ataxia, Unsteady gait ORPHA:457279
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Mosaic Trisomy 1
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebell... ORPHA:1692
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Colpocephaly OMIM:618460
6Q Terminal Deletion Syndrome
Gait ataxia, Colpocephaly, Cerebellar hypoplasia, Dysmetria ORPHA:75857
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Dilated third ventricle, Lateral ventricle dilatation, Difficulty walking, Age... ORPHA:464738
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Holoprosencephaly, Chiari malformation, Colpocephaly, Agenesis of cor... OMIM:618820
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Enlarged cerebellum ORPHA:477993
Holoprosencephaly 13, X-Linked
Colpocephaly, Alobar holoprosencephaly, Agenesis of corpus callosum, Semilobar holoprosencephaly OMIM:301043
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Holoprosencephaly, Partial agenesis of the corpus callosum, Cerebellar atrophy, Ch... OMIM:270400
Choreoacanthocytosis
Bradyphrenia, Loss of ambulation, Impaired vibratory sensation, Mental deterioration, Falls, Chor... ORPHA:2388
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Chiari type I malformation, Chiari malformation, Abnormal lateral ventricle morphology, Social an... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Chiari type I malformation, Chiari malformation, Abnormal lateral ventricle morphology, Social an... ORPHA:353277
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation ORPHA:177907
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive ventriculomegaly, Lateral ventricle dilatation, Chiari ma... ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Inability to walk, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Latera... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Inability to walk, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Latera... ORPHA:261552
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
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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