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Gene: Phldb2 MGI:2444981

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Gene Summary

Name:
pleckstrin homology like domain, family B, member 2
Synonyms:
C820004H04Rik,  LL5b,  LL5beta

Order Alleles

IMPC Data Collections

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
increased basophil cell number Phldb2em1(IMPC)H HOM Early adult 9.16×10-09
increased startle reflex Phldb2em1(IMPC)H HOM Early adult 2.48×10-17
absent optic nerve Phldb2em1(IMPC)H HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Phldb2 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 Phldb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ... OMIM:609541
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re... ORPHA:320406
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Optic Atrophy 11
Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Athetosis, Facial diplegia, Cherry red spot ... OMIM:617302
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:228384
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia, Intention tremor OMIM:618381
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:401777
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia ORPHA:496790
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... ORPHA:447788
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia ORPHA:85284
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Retinal detachment, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia, Neutropenia OMIM:609053
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia OMIM:618828
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia OMIM:300953
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Optic nerve hypoplasia, Thrombocytopenia OMIM:301056
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia ORPHA:572013
D-Glyceric Aciduria
Optic nerve hypoplasia, Opisthotonus OMIM:220120
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia ORPHA:363686
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia OMIM:615280
Verheij Syndrome
Optic nerve hypoplasia OMIM:615583
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:309246
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Squalene Synthase Deficiency
Optic nerve hypoplasia OMIM:618156
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... OMIM:606519
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Aniridia 1
Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen... OMIM:106210
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Torticollis, Abnormal autonomic nervous system physiology, Dystonia ORPHA:300570
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proport... ORPHA:221139
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Rhizomelic Chondrodysplasia Punctata, Type 2
Optic nerve hypoplasia OMIM:222765
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia ORPHA:261250
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia OMIM:612513
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620155
Hyperekplexia 2
Exaggerated startle response OMIM:614619
2P15P16.1 Microdeletion Syndrome
Optic nerve hypoplasia, Optic atrophy, Facial palsy ORPHA:261349
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia OMIM:300749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:357001
White-Sutton Syndrome
Rod-cone dystrophy, Optic nerve hypoplasia OMIM:616364
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Fg Syndrome Type 1
Optic nerve hypoplasia ORPHA:93932
Stromme Syndrome
Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia, Accessory spleen OMIM:243605
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia, Intention tremor OMIM:620029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia, Mi... OMIM:236670
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia, Microphthalmia OMIM:253800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Tay-Sachs Disease
Exaggerated startle response, Tremor, Optic atrophy, Hepatosplenomegaly, Dystonia, Cherry red spo... ORPHA:845
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Optic nerve hypoplasia ORPHA:45358
Sandhoff Disease
Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle response, Orthostatic hypo... OMIM:268800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia OMIM:619321
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Hydranencephaly
Chorioretinal atrophy, Optic nerve hypoplasia, Opisthotonus ORPHA:2177
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood... ORPHA:468631
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Microphth... ORPHA:508498
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Anemia OMIM:609069
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia OMIM:617506
Spondylodysplastic Ehlers-Danlos Syndrome
Optic disc coloboma, Optic nerve hypoplasia ORPHA:536471
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:79255
Marshall-Smith Syndrome
Optic nerve hypoplasia OMIM:602535
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:3301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy OMIM:617527
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:352665
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia OMIM:301043
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma, Retinal vascular malformation ORPHA:42775
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon ORPHA:59315
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:141099
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:457284
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia ORPHA:226307
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia ORPHA:508488
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Optic nerve hypoplasia, Dystonia OMIM:620330
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia OMIM:620025
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:495875
Baller-Gerold Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:218600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:500150
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:95494
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Anemia, Dystonia ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia, Limb tremor OMIM:619841
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 Phldb2

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 Phldb2.

No publications found that use IMPC mice or data for Phldb2.

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
Phldb2tm43128(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Phldb2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phldb2em2(IMPC)H Indel Mice
Phldb2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Phldb2em1(IMPC)H Indel Mice

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