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Gene: Baiap2l2 MGI:2652819

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Gene Summary

Name:
BAI1-associated protein 2-like 2
Synonyms:
N/A

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
abnormal startle reflex Baiap2l2tm1b(EUCOMM)Hmgu HOM Early adult 1.24×10-15
decreased startle reflex Baiap2l2tm1b(EUCOMM)Hmgu HOM Early adult 1.47×10-08
decreased prepulse inhibition Baiap2l2tm1b(EUCOMM)Hmgu HOM   Early adult 1.74×10-13
abnormal auditory brainstem response Baiap2l2tm1a(EUCOMM)Hmgu HOM   Early adult 5.25×10-10
abnormal gait Baiap2l2tm1b(EUCOMM)Hmgu HOM Early adult 7.32×10-05
increased cardiac muscle contractility Baiap2l2tm1a(EUCOMM)Hmgu HOM Early adult 4.75×10-07
decreased startle reflex Baiap2l2tm1a(EUCOMM)Hmgu HOM Early adult 8.69×10-08
decreased grip strength Baiap2l2tm1a(EUCOMM)Hmgu HOM Early adult 2.54×10-05
increased circulating bilirubin level Baiap2l2tm1a(EUCOMM)Hmgu HOM Early adult 3.86×10-05
decreased prepulse inhibition Baiap2l2tm1a(EUCOMM)Hmgu HOM Early adult 6.31×10-07
decreased hematocrit Baiap2l2tm1b(EUCOMM)Hmgu HOM   Early adult 5.61×10-05
abnormal auditory brainstem response Baiap2l2tm1b(EUCOMM)Hmgu HOM   Early adult 1.58×10-24

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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

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Baiap2l2 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 Baiap2l2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 84B
Hearing impairment, Vestibular hypofunction OMIM:614944
Auditory Neuropathy, Autosomal Dominant 1
Absence of acoustic reflex, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hearing impairment, Tremor ORPHA:79234
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... OMIM:601369
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of somatosenso... ORPHA:320401
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus, Hearing impairment OMIM:608224
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Incomplete partition of the cochlea, Conductive hea... OMIM:303110
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... OMIM:613074
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses OMIM:617519
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Dystonia, Increased total bilirubin OMIM:616299
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Dystonia, Shuffling gait, Focal dystonia, General... ORPHA:52368
Hypermethioninemia Due To Adenosine Kinase Deficiency
Sensorineural hearing impairment, Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis OMIM:614300
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration OMIM:172500
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2924
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Hearing impairment, Conjugated hyperbilirubinemia OMIM:243300
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Hyperbilirubinemia, Increased serum bile acid concentration, Increased total... OMIM:616278
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Temporal optic disc pallor, Absent brainstem auditory responses... ORPHA:1215
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Conductive hearing impairment, Abnormal auditory evoked potentials,... OMIM:201050
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of the inner ear, Enlarg... ORPHA:705
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Decreased nerve conduction velocity, Prol... ORPHA:206443
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hearing impairment ORPHA:101009
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hyp... ORPHA:3240
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin, Congestive heart failure ORPHA:90037
Idiopathic Congenital Hypothyroidism
Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Hypermanganesemia With Dystonia 1
Dystonia, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinem... OMIM:613280
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Unconjugated hyperbilirubinemia, Increased serum ir... ORPHA:766
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Spastic gait,... ORPHA:99027
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Congestive heart failure OMIM:269920
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Arrhythmia, Reduced ejection fraction, Hypotension... ORPHA:542323
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Inability to walk, Optic disc pallor, Exaggerated startle response OMIM:609541
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Inability to walk, Optic nerve hypopl... ORPHA:101085
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbuminemia, Hypernatr... ORPHA:529799
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, Sensorineural hea... ORPHA:50815
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Ataxia, Exaggerated startle response OMIM:618598
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Familial Thyroid Dyshormonogenesis
Bradycardia, Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Abnormal circulating ... ORPHA:95716
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Microtia, first degree, Aplasia of the inner ear, Profound sensorineural hearing... OMIM:610706
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Difficulty walking, Optic atrophy, Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Optic atrophy, Hearing impairment ORPHA:95433
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Bor Syndrome
Hearing impairment, Atresia of the external auditory canal, Enlarged cochlear aqueduct, External ... ORPHA:107
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Bilateral sensorin... ORPHA:73272
Lissencephaly Due To Lis1 Mutation
Opisthotonus, EEG with spike-wave complexes, Neonatal hyperbilirubinemia, EEG with changes in vol... ORPHA:95232
Bachmann-Bupp Syndrome
Sensorineural hearing impairment, Cupped ear, Hyperbilirubinemia OMIM:619075
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration, Tremor ORPHA:69665
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Relapsing Fever
Elevated circulating creatinine concentration, Hypotension, Elevated circulating C-reactive prote... ORPHA:91547
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Portal hypertension, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Adult Krabbe Disease
EEG abnormality, Ataxia, Prolonged brainstem auditory evoked potentials, Gait disturbance, Broad-... ORPHA:206448
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Hepatoportal Sclerosis
Portal hypertension, Hyperbilirubinemia, Gastrointestinal hemorrhage, Hypoalbuminemia ORPHA:64743
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Decreased plasma total carnitine, Elevated circulating creatinine concent... OMIM:608836
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Dystonia, Hyperprolinemia, Increased serum pyruva... ORPHA:3008
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Portal hypertension, Increased serum bile acid concentration, Hyperch... OMIM:619662
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Sensorineural hearing impairment OMIM:609727
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Microtia, Epistaxis, Absent antihelix ORPHA:293939
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Hyper... ORPHA:464321
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Epistaxis OMIM:211600
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Low-set ears OMIM:613404
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Cockayne Syndrome Type 1
Ataxia, Anemia, Macrotia, Abnormality of peripheral nerve conduction, Gait disturbance, Absent br... ORPHA:90321
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Conjugated hyp... OMIM:616860
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia OMIM:607765
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Hypertrophic card... OMIM:613673
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Abnormal blood potassium concentration, Pulmonary v... ORPHA:3202
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia ORPHA:1667
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Low-set ears OMIM:208085
Fumarase Deficiency
Hyperbilirubinemia, Optic atrophy OMIM:606812
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Dilated vestibule of the inn... OMIM:611584
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Reynolds Syndrome
Gastrointestinal hemorrhage, Lip telangiectasia, Calcinosis, Hyperbilirubinemia, Raynaud phenomen... OMIM:613471
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Optic disc pallor, Hyperbilirubinemia, Facial palsy, Optic atrophy OMIM:259720
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Hereditary Spherocytosis
Restrictive cardiomyopathy, Hyperbilirubinemia ORPHA:822
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, External ear malformation, Exaggerated startle response, Broad-based gait ORPHA:438216
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Rh Deficiency Syndrome
Reduced haptoglobin level, Tachycardia, Hyperbilirubinemia ORPHA:71275
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia OMIM:266200
Autoimmune Hepatitis
Spider hemangioma, Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2137
Asparagine Synthetase Deficiency
Macrotia, Hypsarrhythmia, Exaggerated startle response OMIM:615574
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Abetalipoproteinemia
Congestive heart failure, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Hyperbili... ORPHA:14
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Graft Versus Host Disease
Tachycardia, Hyperbilirubinemia ORPHA:39812
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:90673
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Abnormal circulating lipid concentration, Conjugate... ORPHA:186
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Microtia, Hyperbilirubinemia, Posteriorly rotated ears, Heart murmur, Intracranial ... ORPHA:163979
Tay-Sachs Disease
Dysmetria, Dystonia, Inability to walk, Gait disturbance, Laryngeal dystonia, Exaggerated startle... ORPHA:845
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Trisomy 10P
Abnormality of the ear, Low-set ears, EEG with burst suppression, Abnormal auditory evoked potent... ORPHA:171929
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Portal hypertension, Hypercalcemia, Hypotension, Hyperbilirubinemia, H... ORPHA:88673
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
EEG abnormality, Dystonia, Cupped ear, Aortic regurgitation, Intention tremor, Isometric tremor, ... OMIM:619475
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Ataxia, Exaggerated startle response OMIM:268800
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Dystonia, Resting tremor, Optic neuropathy, Ataxi... ORPHA:909
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Caroli Syndrome
Portal hypertension, Conjugated hyperbilirubinemia, Hematemesis, Melena, Hyperbilirubinemia ORPHA:480520
Mogs-Cdg
Hepatosplenomegaly, Dystonia, Sensorineural hearing impairment, Absent brainstem auditory respons... ORPHA:79330
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholeste... ORPHA:90674
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Myocardial infarction, ... ORPHA:90038
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Bilateral sensorineural hearing ... ORPHA:1435
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, ... OMIM:229600
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Portal hypertension, Hyperlipidemia, Conjugated hy... ORPHA:567983
Lathosterolosis
Conductive hearing impairment, Abnormal circulating cholesterol concentration, Hyperbilirubinemia OMIM:607330
Yellow Fever
Elevated circulating creatinine concentration, Reduced ejection fraction, Capillary leak, Elevate... ORPHA:99829
Cockayne Syndrome A
Sensorineural hearing impairment, Splenomegaly, Ataxia, Decreased nerve conduction velocity, Abno... OMIM:216400
X-Linked Intellectual Disability, Nascimento Type
Pulmonary arterial hypertension, Mitral stenosis, Macrotia, Neonatal hyperbilirubinemia, Hearing ... ORPHA:163956
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Hypertension, Low-set ears OMIM:613610
Degcags Syndrome
Low-set ears, Sensorineural hearing impairment, Unilateral conductive hearing impairment, Pulmoni... OMIM:619488
Cockayne Syndrome B
Sensorineural hearing impairment, Splenomegaly, Ataxia, Decreased nerve conduction velocity, Abno... OMIM:133540
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Caroli Disease
Portal hypertension, Conjugated hyperbilirubinemia ORPHA:53035
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Exaggerated startl... ORPHA:521426
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Macrotia ORPHA:168577
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia, Low-set ears OMIM:210550
Senior-Boichis Syndrome
Portal hypertension, Hypertension, Increased total bilirubin ORPHA:84081
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Hyperbilirubinemia OMIM:218700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Cardiac arrest, Elevated circulating creatinine con... OMIM:619534
Hardikar Syndrome
Portal hypertension, Hypertension, Hematemesis, Hyperbilirubinemia, Mild hearing impairment OMIM:301068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Dystonia OMIM:618278
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Pulmonary insufficiency OMIM:208500
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Low-set ears, Macrotia, Exaggerated startle response, Hearing impairment ORPHA:79255
Mend Syndrome
Low-set ears, Elevated 8-dehydrocholesterol, Abnormal auditory evoked potentials, Aortic valve st... ORPHA:401973
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Increased blood urea nitrogen, Pulmonary embolism, Myocardial infarction, H... ORPHA:447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Pulmonic stenosis, Elevated circulating creatine kinase concentration, Ex... OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Posteriorly rotated ears, Low-set ears, Exaggerated startle response OMIM:617527
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Hypertension, Hypsarrhythmia OMIM:300896
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Portal hypertension, Hypoalbuminemia OMIM:613658
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concen... ORPHA:79277
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated pla... ORPHA:90041
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Inability to walk, Anemia, Optic disc pallor, Exaggerated startle response, Broad-based... ORPHA:438213
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Low-set ears, Microtia, Posteriorly rotated ears, 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 Baiap2l2

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 Baiap2l2.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Calcium- and Integrin-Binding Protein 2 (CIB2) in Physiology and Disease: Bright and Dark Sides. International journal of molecular sciences (March 2022) Baiap2l2tm1a(EUCOMM)Hmgu PMC8999013
Loss of Baiap2l2 destabilizes the transducing stereocilia of cochlear hair cells and leads to deafness. The Journal of physiology (November 2020) Baiap2l2tm1a(EUCOMM)Hmgu PMC7898316
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Baiap2l2tm1b(EUCOMM)Hmgu PMC5638796

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MGI Allele Allele Type Produced
Baiap2l2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Baiap2l2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Baiap2l2tm83489(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Baiap2l2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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