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Gene: Laptm4b MGI:1890494

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Gene Summary

Name:
lysosomal-associated protein transmembrane 4B
Synonyms:
C330023P13Rik

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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
edema Laptm4btm1e.1(KOMP)Wtsi HOM E15.5 0.00
preweaning lethality, incomplete penetrance Laptm4btm1e.1(KOMP)Wtsi HOM   Early adult 0.00
abnormal neural tube closure Laptm4btm1e.1(KOMP)Wtsi HOM E12.5 0.00
decreased prepulse inhibition Laptm4btm1e.1(KOMP)Wtsi HET Early adult 1.62×10-09
abnormal embryo size Laptm4btm1e.1(KOMP)Wtsi HOM E12.5 0.00
preweaning lethality, complete penetrance Laptm4btm1e.1(KOMP)Wtsi HOM Early adult 0.00
abnormal craniofacial morphology Laptm4btm1e.1(KOMP)Wtsi HOM E15.5 0.00
abnormal eye morphology Laptm4btm1e.1(KOMP)Wtsi HOM E12.5 0.00
abnormal hindbrain morphology Laptm4btm1e.1(KOMP)Wtsi HOM E12.5 0.00
abnormal midbrain morphology Laptm4btm1e.1(KOMP)Wtsi HOM E12.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A Ambiguous
Axial skeleton N/A homozygote 0.0% (0 of 2)
Brain N/A heterozygote Ambiguous
Brain N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
Central nervous system ganglion N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote Ambiguous
Ear N/A homozygote 0.0% (0 of 5)
Embryo N/A heterozygote 0.0% (0 of 3)
Embryo N/A homozygote 0.0% (0 of 5)
Eye N/A heterozygote Ambiguous
Eye N/A homozygote 0.0% (0 of 5)
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote 0.0% (0 of 5)
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote 0.0% (0 of 5)
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
Gut N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote 0.0% (0 of 5)
Head N/A heterozygote Ambiguous
Head N/A homozygote 0.0% (0 of 5)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote 0.0% (0 of 5)
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote 0.0% (0 of 5)
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote 0.0% (0 of 5)
Liver N/A heterozygote Ambiguous
Liver N/A homozygote 20% (1 of 5)
Lung N/A heterozygote Ambiguous
Lung N/A homozygote 0.0% (0 of 5)
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote 0.0% (0 of 5)
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote 0.0% (0 of 5)
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
Nose N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
Chorioallantoic placenta N/A homozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote Ambiguous
Skin N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
Spinal cord N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote 0.0% (0 of 5)
Tail N/A heterozygote Ambiguous
Tail N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
Trachea N/A homozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A homozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Embryo LacZ

LacZ images wholemount

32 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Human diseases caused by Laptm4b 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 Laptm4b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation OMIM:614465
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... ORPHA:1532
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Intrauterine gro... OMIM:614815
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:617127
Joubert Syndrome 22
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis OMIM:615665
Joubert Syndrome 7
Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia OMIM:619111
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele OMIM:612285
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
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... OMIM:614424
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... ORPHA:370959
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem, I... ORPHA:356961
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Hypopl... OMIM:616546
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus, Hypoplasia of t... OMIM:608091
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Lymphedema OMIM:607131
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... OMIM:216360
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital myelo... OMIM:213300
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
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... ORPHA:163961
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Lymphedema ORPHA:79279
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:2318
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:220497
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619185
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Chiari malformation, Hydrom... ORPHA:268810
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... OMIM:619306
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:220493
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology, Polyhydramnios ORPHA:314621
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Meningocel... ORPHA:397715
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Cer... ORPHA:79139
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology ORPHA:467166
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:444072
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Alg3-Cdg
Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation ORPHA:79321
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
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
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia OMIM:619476
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Molar tooth sign on MRI, Encephalocele, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:616300
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Ch... OMIM:249000
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Cerebral edema ORPHA:88619
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia OMIM:277170
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys... ORPHA:8
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia OMIM:616202
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology ORPHA:2720
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:2754
Wilson Disease
Ascites, Pedal edema, Edema, Face of the giant panda sign OMIM:277900
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis OMIM:619479
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Holoprosencephaly, Cerebellar hypoplasia, ... OMIM:615948
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:251937
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
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
Intrauterine growth retardation, Abnormal brainstem morphology, Polyhydramnios, Oligohydramnios ORPHA:464311
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology ORPHA:93924
Schinzel-Giedion Syndrome
Chiari type I malformation, Umbilical hernia, Neural tube defect ORPHA:798

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 Laptm4b

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 Laptm4b.

No publications found that use IMPC mice or data for Laptm4b.

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
Laptm4btm1e.1(KOMP)Wtsi Promoter excision from Targeted, non-conditional allele Mice, Tissue
Laptm4btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Laptm4btm1e(KOMP)Wtsi Targeted, non-conditional allele Mice, ES Cells

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