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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
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
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
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

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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A 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
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
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
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
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 Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
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 Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hearing impairment ORPHA:79234
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
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 motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Dystonia, Pulmonary arterial hypertension, Incre... OMIM:616299
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... ORPHA:52368
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Elevated ci... OMIM:614300
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2924
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hearing impairment OMIM:243300
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacit... OMIM:616278
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased nerve conduction veloci... ORPHA:206443
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Hypertyrosinemia, Abnormal ... ORPHA:247598
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Hypochromic microcyti... ORPHA:3240
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hearing impairment ORPHA:101009
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Upper limb postural tremor, ... ORPHA:99027
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Congestive heart failure OMIM:269920
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking ORPHA:320406
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Increased total bilirubin ORPHA:90037
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... OMIM:613280
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Hearing impairment OMIM:620114
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia ORPHA:713
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus OMIM:619685
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia, Posteriorly rotated ears, Low-set ears OMIM:618598
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Abnormal circulating thyroglobulin... ORPHA:95716
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Bachmann-Bupp Syndrome
Sensorineural hearing impairment, Cupped ear, Hyperbilirubinemia OMIM:619075
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Lissencephaly Due To Lis1 Mutation
EEG with changes in voltage, Opisthotonus, Hypsarrhythmia, EEG with spike-wave complexes, Neonata... ORPHA:95232
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensori... ORPHA:73272
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Macrotia, EEG with gener... OMIM:617864
Relapsing Fever
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... ORPHA:91547
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Dilated cardiomyopa... OMIM:608836
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hyperbilirubinemia, Hypoalbuminemia, Portal hypertension ORPHA:64743
Intrahepatic Cholestasis Of Pregnancy
Tremor, Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugated hyperbiliru... OMIM:619662
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbuminemia, Hyper... OMIM:617156
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Anemia, Gait disturbance, Dif... ORPHA:90321
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Neonatal hyperbilirubinemia OMIM:609727
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Tremor, Hyperammonemia, Hyperproli... ORPHA:3008
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Epistaxis OMIM:211600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... OMIM:616860
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Distal Xq28 Microduplication Syndrome
Absent antihelix, Neonatal hyperbilirubinemia, Microtia, Epistaxis ORPHA:293939
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Decreased nerve conduc... OMIM:277900
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... ORPHA:206448
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Broad-based gait, Ataxia, External ear malformation, Dystonia ORPHA:438216
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Pulmonary embolism OMIM:185000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Hypertrophic cardiomyopathy, Reduced haptoglobin level, Hyperbil... OMIM:613673
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Conjugated hyperbilirubinemia, Sensorineural heari... OMIM:614866
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Portal... OMIM:251880
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Pulmonary venous hypertension, Abnormal blood potas... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hyperbilirubinemia OMIM:613812
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Low-set ears OMIM:613404
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hyperammonemia, Decreased serum ... OMIM:617093
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Tay-Sachs Disease
Exaggerated startle response, Tremor, Inability to walk, Optic atrophy, Dysmetria, Hepatosplenome... ORPHA:845
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Low-set ears, Hearing impairment OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Rh Deficiency Syndrome
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Graft Versus Host Disease
Tachycardia, Hyperbilirubinemia ORPHA:39812
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Hereditary Spherocytosis
Restrictive cardiomyopathy, Hyperbilirubinemia ORPHA:822
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response, Ataxia, Orthostatic hypotension OMIM:268800
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Optic atrophy, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Increased total bilirubin ORPHA:2137
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hearing impairment OMIM:620327
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Congestive heart failure, Decreased LDL cholesterol conc... ORPHA:14
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Isometric tremor, Head titubation, Congestive heart failure, C... OMIM:619475
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy,... ORPHA:909
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abn... ORPHA:186
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level, Bradycardia ORPHA:90673
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Posteriorly rotated ears, Heart murmur, Intracranial hemorrhage, Microtia, Hypocalcemia, Hyperbil... ORPHA:163979
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia OMIM:611881
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy OMIM:617281
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia OMIM:606812
Reynolds Syndrome
Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiec... OMIM:613471
Ogden Syndrome
Torticollis, Ventricular tachycardia, Premature ventricular contraction, Protruding ear, Low-set ... OMIM:300855
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Caroli Syndrome
Portal hypertension, Conjugated hyperbilirubinemia, Hematemesis, Melena, Hyperbilirubinemia ORPHA:480520
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Lathosterolosis
Conductive hearing impairment, Abnormal circulating cholesterol concentration, Elevated circulati... OMIM:607330
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Bradycardia, Neonatal hyperbiliru... ORPHA:90674
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... ORPHA:90038
Cockayne Syndrome A
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Tremor, Decreased nerve c... OMIM:216400
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617301
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Portal hypertension, Abnormal circulating fatty-ac... ORPHA:567983
Yellow Fever
Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes... ORPHA:99829
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Low-set ears, Dystonia, Macrotia, Hearing impai... ORPHA:79255
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Facial palsy, Progressive sensorineural hearing impairment, Optic disc ... OMIM:620186
Cockayne Syndrome B
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Tremor, Decreased nerve c... OMIM:133540
X-Linked Intellectual Disability, Nascimento Type
Pulmonary arterial hypertension, Mitral stenosis, Macrotia, Neonatal hyperbilirubinemia, Hearing ... ORPHA:163956
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia OMIM:218700
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Caroli Disease
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Portal hyper... ORPHA:53035
Degcags Syndrome
Tachycardia, Posteriorly rotated ears, Hearing impairment, Sensorineural hearing impairment, Pulm... OMIM:619488
Cranioectodermal Dysplasia 2
Hypertension, Hyperbilirubinemia, Low-set ears, Simple ear OMIM:613610
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Macrotia ORPHA:168577
Senior-Boichis Syndrome
Hypertension, Portal hypertension, Increased total bilirubin ORPHA:84081
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Hardikar Syndrome
Portal hypertension, Hematemesis, Hypertension, Hyperbilirubinemia, Mild hearing impairment OMIM:301068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617527
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Pulmonary insufficiency OMIM:208500
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... ORPHA:401973
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... OMIM:619534
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Dystonia OMIM:618278
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension, Microtia, Hyperbilirubinemia, Low-set ears OMIM:210710
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Mixed hearing impairment, Sensorineural hearing impairment OMIM:620305
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Myocardial infarction, Pulmonary embolism, Hypertension, Budd-Chiari syndro... ORPHA:447
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypoalbuminemia, Hypocalcemia, Portal hypertension OMIM:613658
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Neonatal hyperbilirubinemia, Hypsarrhythmia OMIM:300896
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Broad-based gait, Inability to walk, Dystonia, A... ORPHA:438213
Johanson-Blizzard Syndrome
Portal hypertension, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Sen... OMIM:243800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe 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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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

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
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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