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Gene: Laptm4b MGI:1890494

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Gene Summary

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

Order Alleles

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
abnormal midbrain morphology Laptm4btm1e.1(KOMP)Wtsi HOM E12.5 0.00
abnormal craniofacial morphology Laptm4btm1e.1(KOMP)Wtsi HOM E15.5 0.00
decreased prepulse inhibition Laptm4btm1e.1(KOMP)Wtsi HET Early adult 1.50×10-09
abnormal eye morphology Laptm4btm1e.1(KOMP)Wtsi HOM E12.5 0.00
abnormal hindbrain morphology Laptm4btm1e.1(KOMP)Wtsi HOM E12.5 0.00
increased startle reflex Laptm4btm1e.1(KOMP)Wtsi HET Early adult 2.56×10-05
preweaning lethality, incomplete penetrance Laptm4btm1e.1(KOMP)Wtsi HOM   Early adult 0.00
edema Laptm4btm1e.1(KOMP)Wtsi HOM E15.5 0.00
abnormal neural tube closure Laptm4btm1e.1(KOMP)Wtsi HOM E12.5 0.00
preweaning lethality, complete penetrance Laptm4btm1e.1(KOMP)Wtsi HOM Early adult 0.00
abnormal embryo size Laptm4btm1e.1(KOMP)Wtsi HOM E12.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

Embryo LacZ

LacZ images wholemount

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

6 Images

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Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 Images

View images

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
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Rhombencephalosynapsis, Ethmoidal encephalocele, Hypoplasia of the ... ORPHA:280195
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Joubert Syndrome 16
Dandy-Walker malformation, Encephalocele, Molar tooth sign on MRI OMIM:614465
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Mol... OMIM:611134
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis h... ORPHA:1532
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
Joubert Syndrome 18
Agenesis of cerebellar vermis, Intrauterine growth retardation, Occipital encephalocele, Molar to... OMIM:614815
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI... OMIM:614175
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Joubert Syndrome 22
Agenesis of cerebellar vermis, Intrauterine growth retardation, Molar tooth sign on MRI OMIM:615665
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:617127
Joubert Syndrome 7
Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:611560
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on... OMIM:617622
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongated su... OMIM:610688
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Joubert Syndrome 10
Polyhydramnios, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Encepha... OMIM:614424
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... 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
Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal brainstem ... ORPHA:370959
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:618161
Joubert Syndrome 2
Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, Brainstem dysplasia, Encephaloc... OMIM:608091
Slc35A2-Cdg
Abnormal midbrain morphology, Cerebellar atrophy, Intrauterine growth retardation, Atrophy/Degene... ORPHA:356961
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Lymphedema OMIM:607131
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Occipital meningocele, Hydrocephalus, ... OMIM:616546
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:608629
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Coach Syndrome 1
Cerebellar vermis hypoplasia, Occipital encephalocele, Encephalocele, Molar tooth sign on MRI, Ap... OMIM:216360
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, B... OMIM:213300
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Abnormal cerebellum morphology ORPHA:255182
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Lymphedema ORPHA:79279
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI ORPHA:2318
Joubert Syndrome With Renal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI ORPHA:220497
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619185
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydrocephalus, Agenesis of cerebella... ORPHA:163961
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Cerebellar h... OMIM:619306
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Joubert Syndrome With Ocular Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI ORPHA:220493
Isolated Posterior Meningocele
Hydromyelia, Chiari malformation, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital men... ORPHA:268810
Duplication Of The Pituitary Gland
Polyhydramnios, Encephalocele, Abnormal midbrain morphology ORPHA:314621
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Occipital encephalocele, Dysgenesis of the cerebellar vermis, Abnor... ORPHA:397715
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Cerebellar atrophy, Hypoplasia of the pons ORPHA:300573
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Pulmonary edema, Cerebral ede... ORPHA:79139
Tubulinopathy-Associated Dysgyria
Abnormal brainstem morphology, Hypoplasia of the pons, Cerebellar vermis hypoplasia ORPHA:467166
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypo... ORPHA:444072
Joubert Syndrome 5
Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Agenesi... OMIM:610188
Alg3-Cdg
Dandy-Walker malformation, Hypoplasia of the pons, Neural tube defect ORPHA:79321
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal cerebellum morpholo... ORPHA:68
Arima Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Brainstem dysplasia, Dilated fourth ve... OMIM:243910
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Cerebellar atroph... ORPHA:98755
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Abnormal brainstem morphology, Abnormal pons morphology, Cerebellar vermis hypop... ORPHA:370997
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619476
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cerebellar hypoplasia, Dandy-Walker malformation, Encephalocele, Molar tooth sign on MRI OMIM:616300
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology ORPHA:88619
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Occipital meningocele, Molar tooth sign on MRI OMIM:277170
Meckel Syndrome, Type 1
Occipital encephalocele, Chiari malformation, Intrauterine growth retardation, Large placenta, Ol... OMIM:249000
47,Xyy Syndrome
Abnormal brainstem morphology, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydroce... ORPHA:8
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Cerebellofaciodental Syndrome
Cerebellar hypoplasia, Hypoplasia of the pons, Hypoplasia of the midbrain OMIM:616202
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:2720
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2754
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Molar tooth sign on MRI OMIM:619479
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar hypoplasia, Abnormal brainstem morphology, Intrauterine growth retardation, Cerebellar... OMIM:301310
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Occipital encephalocele, Cerebellar hypoplasia, Molar tooth sign on... OMIM:615948
Wilson Disease
Ascites, Face of the giant panda sign, Edema, Pedal edema OMIM:277900
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Gangliocytoma
Abnormal brainstem morphology, Abnormal cerebellum morphology ORPHA:251937
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dandy-Walker malformation, Molar tooth sign on MRI ORPHA:434179
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Polyhydramnios, Abnormal brainstem morphology, Intrauterine growth retardation, Oligohydramnios ORPHA:464311
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Semilobar Holoprosencephaly
Abnormal brainstem morphology, Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Abnormal brainstem morphology, Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal brainstem morphology, Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Abnormal brainstem morphology, Hydrocephalus, Neural tube defect ORPHA:93924
Schinzel-Giedion Syndrome
Chiari type I malformation, Neural tube defect, Umbilical hernia ORPHA:798
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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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