Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Phldb2em1(IMPC)H HOM Early adult 2.87×10-17
absent optic nerve Phldb2em1(IMPC)H HOM Early adult 0.00
increased basophil cell number Phldb2em1(IMPC)H HOM Early adult 1.24×10-08

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 Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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 hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Remnants of the hyaloid vascular system, Microphth... OMIM:120200
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic nerve hypoplasia, Optic disc hypoplasia, Peripheral vitreous opacit... ORPHA:137902
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Aniridia ORPHA:1068
Microphthalmia, Isolated 8
Microphthalmia, Retinal detachment, Optic nerve hypoplasia OMIM:615113
Microphthalmia, Syndromic 3
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia OMIM:206900
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Optic nerve aplasia ORPHA:264200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Septooptic Dysplasia
Optic nerve hypoplasia, Optic disc hypoplasia OMIM:182230
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Optic disc pallor, Exaggerated startle response, Optic atrophy, Motor ... OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic disc ... ORPHA:320406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Chromosome 19P13.13 Deletion Syndrome
Optic nerve hypoplasia, Optic atrophy OMIM:613638
Hyperekplexia 3
Exaggerated startle response OMIM:614618
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Optic nerve hypoplasia, Optic atrophy ORPHA:163937
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerve ORPHA:137634
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:228384
Cerebral Visual Impairment
Optic nerve hypoplasia, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc rati... ORPHA:447788
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Optic atrophy, Optic disc hypoplasia ORPHA:401777
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
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy ORPHA:496790
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Aganglionic megacolon ORPHA:85284
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia OMIM:617864
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Fanconi Anemia, Complementation Group I
Neutropenia, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Optic atrophy ORPHA:370959
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia OMIM:300953
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased number of large peripheral myelinated nerve fibers, Head tremor, Optic ner... ORPHA:101085
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia OMIM:618828
Squalene Synthase Deficiency
Optic nerve hypoplasia OMIM:618156
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia OMIM:615280
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Optic nerve hypoplasia, Thrombocytopenia OMIM:301056
Phace Association
Optic nerve hypoplasia, Increased retinal vascularity, Microphthalmia, Horner syndrome, Optic atr... OMIM:606519
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Aniridia 1
Hypoplasia of the iris, Hypoplasia of the fovea, Optic nerve hypoplasia, Chorioretinal hypopigmen... OMIM:106210
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia ORPHA:363686
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Intention tremor, Optic nerve hypoplasia, Decreased proportion of CD4-positive helper T cells, B ... ORPHA:221139
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Optic nerve hypoplasia, Dystonia, Abnormal autonomic nervous system physiology ORPHA:300570
Pancreatic And Cerebellar Agenesis
Anemia, Optic nerve hypoplasia OMIM:609069
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia ORPHA:261250
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia OMIM:612513
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Dystonia, Exaggerated startle response ORPHA:309246
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic nerve hypoplasia, Optic disc pallor, Retinal coloboma OMIM:300749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
2P15P16.1 Microdeletion Syndrome
Facial palsy, Optic nerve hypoplasia, Optic atrophy ORPHA:261349
White-Sutton Syndrome
Rod-cone dystrophy, Optic nerve hypoplasia OMIM:616364
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
19P13.13 Microdeletion Syndrome
Optic nerve hypoplasia, Optic atrophy ORPHA:357001
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Fg Syndrome Type 1
Optic nerve hypoplasia ORPHA:93932
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia, Retinal vascular tortuosity, Accessory spleen OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Retinal dysplasia, Retinal detachment, Microphthalmia, Retinal atrophy, O... OMIM:236670
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Optic disc hypoplasia ORPHA:79345
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Hydranencephaly
Chorioretinal atrophy, Optic nerve hypoplasia, Opisthotonus ORPHA:2177
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia, Optic disc pallor, Attenuation of retinal blood... ORPHA:468631
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy OMIM:619321
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia, Abnormality of the optic disc, Facial palsy, Retinal colo... ORPHA:508498
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Retinal dysplasia, Microphthalmia, Exaggerated startle response, Optic atrophy OMIM:253800
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Hepatosplenomegaly, Exaggerated startle r... OMIM:268800
Tay-Sachs Disease
Cherry red spot of the macula, Dystonia, Laryngeal dystonia, Exaggerated startle response, Optic ... ORPHA:845
Spondylodysplastic Ehlers-Danlos Syndrome
Optic disc coloboma, Optic nerve hypoplasia ORPHA:536471
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:3301
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia OMIM:617506
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia OMIM:301043
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Abnormality of the optic nerve ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Abnormality of the optic nerve ORPHA:352665
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Retinal vascular malformation, Lens coloboma ORPHA:42775
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Optic atrophy, Exaggerated startle response ORPHA:521426
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon ORPHA:59315
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Proboscis Lateralis
Chorioretinal coloboma, Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Optic disc coloboma ORPHA:141099
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:457284
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
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
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:495875
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic nerve hypoplasia, Optic atrophy ORPHA:500150
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:95494
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Optic nerve hypoplasia, Retinal coloboma ORPHA:508488
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Optic disc pallor, 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 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.

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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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