Gene Summary

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

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
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
increased cardiac muscle contractility Baiap2l2tm1a(EUCOMM)Hmgu HOM Early adult 4.75×10-07
decreased prepulse inhibition Baiap2l2tm1a(EUCOMM)Hmgu HOM Early adult 6.31×10-07
abnormal gait Baiap2l2tm1b(EUCOMM)Hmgu HOM Early adult 7.32×10-05
abnormal auditory brainstem response Baiap2l2tm1a(EUCOMM)Hmgu HOM   Early adult 5.25×10-10
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
abnormal startle reflex Baiap2l2tm1b(EUCOMM)Hmgu HOM Early adult 1.24×10-15
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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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

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

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
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 84A
Hearing impairment, Abnormal vestibular function OMIM:613391
Deafness, Autosomal Recessive 1B
Hearing impairment, Abnormal vestibular function OMIM:612645
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
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 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 25
Hearing impairment, Abnormal vestibular function, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Crigler-Najjar Syndrome Type 1
Hearing impairment, Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... OMIM:601068
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, J... OMIM:613608
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
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
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Dystonia, Hyperprolinemi... OMIM:616299
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses OMIM:617519
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Sensorineural hearing impairment, H... OMIM:614300
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastrointestinal hemorrhage ORPHA:2924
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Cholestasis, Benign Recurrent Intrahepatic, 1
Hearing impairment, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentratio... OMIM:616278
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr... ORPHA:247598
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Ataxia, Exaggerated st... OMIM:616881
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Head titubation, Thrombocytop... ORPHA:3240
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Autosomal Dominant Spastic Paraplegia Type 29
Hearing impairment, Hyperbilirubinemia ORPHA:101009
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Inability to walk, Optic disc pallor, Exaggerated startle response OMIM:609541
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Infantile Sialic Acid Storage Disease
Congestive heart failure, Conjugated hyperbilirubinemia OMIM:269920
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Increased total bilirubin ORPHA:90037
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Orthostatic hypotension, Sensorineural hearing impairment, Dysdiadochokinesis, Trem... ORPHA:99027
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Unconjugated hyperbilirubinemia, Dystonia, Hyperma... OMIM:613280
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Optic disc pallor, Exaggerated startle response ORPHA:320406
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Steppage gait, Decreased nerve conduction velocity, Inability to walk, Sensorineural... ORPHA:101085
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hyperbilirubinemia, Hypo... ORPHA:542323
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Inability to walk, Exaggerated startle response OMIM:620114
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Opisthotonus, Increased serum bile acid concentration OMIM:619685
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Ataxia, Exaggerated startle response OMIM:618598
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration ORPHA:95433
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Abnormal circulating thyroglobulin concentration, Neonatal hype... ORPHA:95716
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration, Hematochezia OMIM:214950
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capaci... ORPHA:98870
Relapsing Fever
Elevated circulating C-reactive protein concentration, Hypotension, Increased total bilirubin, Ep... ORPHA:91547
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Optic nerve hypoplasia, Exaggerated startle response, Macrotia, EEG with gener... OMIM:617864
Bachmann-Bupp Syndrome
Sensorineural hearing impairment, Hyperbilirubinemia, Cupped ear OMIM:619075
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Abnormal serum bile acid concentration, Conjugated hyperbilirubinemia ORPHA:79303
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
EEG with spike-wave complexes, Hypsarrhythmia, Opisthotonus, Neonatal hyperbilirubinemia, EEG wit... ORPHA:95232
Fetal Cytomegalovirus Syndrome
Optic atrophy, Sensorineural hearing impairment, Retinal hemorrhage, Conjugated hyperbilirubinemia ORPHA:294
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Tremor, Increased serum bile acid concentration ORPHA:69665
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatinine concentration, Antenatal intracerebral hemorrhage, Low-set ears, ... OMIM:608836
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, A... ORPHA:206448
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Hyperbilirubinemia, Portal hypertension ORPHA:64743
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Tremor, Increased serum pyruvate,... ORPHA:3008
Stiff-Person Syndrome
Opisthotonus, Anemia, Exaggerated startle response OMIM:184850
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Elev... OMIM:619662
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hy... OMIM:617156
Cockayne Syndrome Type 1
Optic atrophy, Difficulty walking, Anemia, Tremor, Absent brainstem auditory responses, Gait dist... ORPHA:90321
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Hyperbilirubinemia, Retinal ... ORPHA:464321
Glycogen Storage Disease Vii
Increased total bilirubin, Elevated circulating creatine kinase concentration, Hyperuricemia OMIM:232800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Neonatal hyperbilirubinemia OMIM:609727
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Conjugated hyperbilirubinemia OMIM:211600
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Distal Xq28 Microduplication Syndrome
Absent antihelix, Microtia, Epistaxis, Neonatal hyperbilirubinemia ORPHA:293939
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic iron concentration, Increased circulating ferritin concentration, Conjugated hyp... OMIM:616860
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Abnormal pinna morphology, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Pulmonary embolism OMIM:185000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia OMIM:617049
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Increased circulating very long-chain fatty acid concentrat... OMIM:614866
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Reduced haptoglobin level, Hypertrophic cardiomyopathy, Unconjugated hyperbil... OMIM:613673
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Sensorineural hearing impairment, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum ... OMIM:617093
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Hematochezia OMIM:613812
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Low-set ears, Conjugated hyperbilirubinemia OMIM:613404
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I... ORPHA:3202
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hypocalcemia, Undetectable visual evoked potentials, Hyperbilirubinemia, Facial pa... OMIM:259720
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Hearing impairment, Low-set ears, Conjugated hyperbilirubinemia OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Portal... OMIM:251880
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Rh Deficiency Syndrome
Tachycardia, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Tay-Sachs Disease
Optic atrophy, Inability to walk, Tremor, Exaggerated startle response, Gait disturbance, Hearing... ORPHA:845
Wilson Disease
Decreased nerve conduction velocity, Decreased circulating ceruloplasmin concentration, Hypourice... OMIM:277900
Abetalipoproteinemia
Congestive heart failure, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbili... ORPHA:14
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Hereditary Spherocytosis
Hyperbilirubinemia, Restrictive cardiomyopathy ORPHA:822
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Autoimmune Hepatitis
Increased total bilirubin, Spider hemangioma, Gastrointestinal hemorrhage ORPHA:2137
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Resting tremor, Abnormal auditory evoked pote... ORPHA:909
Graft Versus Host Disease
Tachycardia, Hyperbilirubinemia ORPHA:39812
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Sandhoff Disease
Ataxia, Hepatosplenomegaly, Orthostatic hypotension, Exaggerated startle response OMIM:268800
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Difficulty walking, Low-set ears, Exaggerated startle response, Gait ataxia, Ataxia OMIM:620451
Lathosterolosis
Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirubinemia OMIM:607330
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Multifocal epileptiform discharges, Congestive heart failure, Isometric tremor, Torticollis, Aort... OMIM:619475
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Bradycardia ORPHA:90673
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Reynolds Syndrome
Gastrointestinal hemorrhage, Calcinosis, Lip telangiectasia, Hyperbilirubinemia, Raynaud phenomen... OMIM:613471
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia OMIM:606812
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Microtia, Posteriorly rotated ears, Intracranial hemorrhage, He... ORPHA:163979
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Macrotia, EEG abnormality, Exaggerated startle response OMIM:617281
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Ogden Syndrome
Recurrent otitis media, Torticollis, Hyperbilirubinemia, Supraventricular tachycardia, Low-set ea... OMIM:300855
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinem... ORPHA:90674
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Caroli Syndrome
Hematemesis, Melena, Hyperbilirubinemia, Portal hypertension, Conjugated hyperbilirubinemia ORPHA:480520
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hypertension, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating cr... ORPHA:90038
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Orthostatic hypotension, Portal hypertension, Conjugate... ORPHA:186
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Portal hypertension, Abnormal circulating fatty-ac... ORPHA:567983
Asparagine Synthetase Deficiency
Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, Macrotia, Simple ea... OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Sensorineural hearing impairmen... ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypsarrhythmia, Exaggerated startle response, Dystonia, Thrombocytopenia, EEG with burst suppression OMIM:620423
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Hyperbiliru... ORPHA:99829
X-Linked Intellectual Disability, Nascimento Type
Pulmonary arterial hypertension, Hearing impairment, Macrotia, Mitral stenosis, Neonatal hyperbil... ORPHA:163956
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microtia, Bilateral conductive hearing impairment, Low-set ears, Facial... OMIM:620186
Gm1 Gangliosidosis Type 1
Low-set ears, Exaggerated startle response, Hearing impairment, Macrotia, Hepatosplenomegaly ORPHA:79255
Fructose Intolerance, Hereditary
Bicarbonaturia, Gastrointestinal hemorrhage, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Degcags Syndrome
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Hyperbilirubinemia, L... OMIM:619488
Sickle Cell Anemia
Ischemic stroke, Elevated circulating creatinine concentration, Pulmonary arterial hypertension, ... ORPHA:232
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Bradycardia OMIM:218700
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Hypertension, Low-set ears, Simple ear OMIM:613610
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Caroli Disease
Conjugated hyperbilirubinemia, Portal hypertension ORPHA:53035
Hereditary Cryohydrocytosis With Reduced Stomatin
Macrotia, Conjugated hyperbilirubinemia ORPHA:168577
Liver Disease, Severe Congenital
Recurrent otitis media, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Systo... OMIM:619991
Senior-Boichis Syndrome
Increased total bilirubin, Hypertension, Portal hypertension ORPHA:84081
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears, Aortic valve stenosis, Elevated 8(9)-cholesten... ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Elevated circulating creatine kinase concentration, Exaggerated startle response, ... OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Posteriorly rotated ears, Exaggerated startle response, Low-set ears OMIM:617527
Hardikar Syndrome
Hematemesis, Mild hearing impairment, Hyperbilirubinemia, Hypertension, Portal hypertension OMIM:301068
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Conjugated hyperbilirubinemia OMIM:208500
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Biliary, Renal, Neurologic, And Skeletal Syndrome
Bidirectional shunt, Aortic regurgitation, Hyperbilirubinemia, Cardiac arrest, Low-set ears, Pulm... OMIM:619534
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Unconjugated hyperbilirubinemia OMIM:618278
Neurooculorenal Syndrome
Sensorineural hearing impairment, Mixed hearing impairment, Conjugated hyperbilirubinemia OMIM:620305
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Portal hypertension, Unconjugated hyperbilirubinemia OMIM:613658
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Hypertension, Budd-Chiari syndrome, Unconjugated hyperbilirubinemia, I... ORPHA:447
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia, Microtia, Hypertension, Low-set ears OMIM:210710
Congenital Disorder Of Glycosylation, Type Iim
Hypsarrhythmia, Hypertension, Neonatal hyperbilirubinemia OMIM:300896
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Elevated circulating C-reactive protein concentration, Conjugated hyperb... OMIM:620376
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:79277
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Exaggerated startle response OMIM:618367
Gaisböck Syndrome
Increased hematocrit, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Inability to walk, Broad-based gait, Exaggerated startle response, Dystonia, Optic disc p... ORPHA:438213
Johanson-Blizzard Syndrome
Hypocalcemia, Sensorineural hearing impairment, Portal hypertension, Increased VLDL cholesterol c... OMIM:243800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears 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 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
HNF1β-associated cyst development and electrolyte disturbances are not explained by BAIAP2L2 expression. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (January 2023) Baiap2l2tm1a(EUCOMM)Hmgu 36520027
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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