Gene Summary

Name:
kaptin
Synonyms:
2E4,  actin-binding protein,  C030013F01Rik,  2310042D10Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Kptntm1a(EUCOMM)Wtsi HOM Early adult 1.44×10-09
abnormal behavior Kptntm1a(EUCOMM)Wtsi HOM Early adult 1.59×10-05
abnormal tail movements Kptntm1a(EUCOMM)Wtsi HOM   Early adult 5.36×10-05
increased body weight Kptntm1a(EUCOMM)Wtsi HOM   Early adult 1.74×10-14

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Histopathology

Images

7 Images

Legacy Phenotype Associated Images

View all 74 images

Human diseases caused by Kptn 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.

The table below shows human diseases associated to Kptn by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 41
Recurrent pneumonia OMIM:615637
Macrocephaly-Developmental Delay Syndrome
Recurrent pneumonia ORPHA:397612

The table below shows human diseases predicted to be associated to Kptn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 53
Failure to thrive, Recurrent respiratory infections, Recurrent infections, Recurrent otitis media OMIM:617585
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf... OMIM:614372
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent ot... OMIM:616022
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 110 With Lymphoproliferation
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Immunodeficiency 61
Recurrent sinusitis, Recurrent otitis media, Frequent Giardia lamblia infestation, Obesity, Recur... OMIM:300310
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis OMIM:613494
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Failure to thrive, Recurrent bacterial infections, ... OMIM:613501
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Severe toxoplasmosis, Tegumentary leishma... ORPHA:319552
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Recurrent... OMIM:605258
Immunodeficiency 84
Persistent EBV viremia, Recurrent bacterial infections OMIM:619437
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent sinusitis, Recurrent ... OMIM:613493
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent respiratory infections, Recurrent upper respiratory tract infections, Obesity, Recurren... OMIM:300209
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... OMIM:300636
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Large for gestational age ORPHA:2432
Macrosomia Adiposa Congenita
Obesity, Large for gestational age OMIM:248100
Leptin Deficiency Or Dysfunction
Recurrent ear infections, Recurrent pneumonia, Obesity, Recurrent upper respiratory tract infections OMIM:614962
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... ORPHA:275
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, Recurrent viral infections... OMIM:209920
Summitt Syndrome
Obesity OMIM:272350
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media OMIM:613502
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Central Precocious Puberty
Overgrowth, Obesity, Meningitis, Increased body weight ORPHA:759
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media OMIM:612692
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Obesity, Recurrent otitis media OMIM:615993
Thymic Aplasia
Invasive fungal infection, Opportunistic infection, Severe infection, Recurrent Staphylococcus au... ORPHA:83471
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:240500
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... ORPHA:276
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... ORPHA:911
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Disseminated molluscum contagiosum, Recurrent sinusitis, Recurrent otitis media, Recurrent sinopu... OMIM:243700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Recurrent herpes, Chronic mucocutaneous candidiasis, ... ORPHA:572
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Recurrent bacterial infections OMIM:619693
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:607594
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... ORPHA:2688
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Agammaglobulinemia 1, Autosomal Recessive
Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections,... OMIM:601495
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Failure to thrive, S... OMIM:617475
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections, Recurrent mening... OMIM:610984
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infections, Meningitis, Recurrent... ORPHA:169090
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... OMIM:147060
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71526
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... OMIM:116920
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Recurrent urinary tract infections, Pyoderma, Recurrent oti... OMIM:307200
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233710
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent shingles, Severe infection, Recurrent urinary tract infections, Recurrent herpes, Recur... ORPHA:183675
Halothane Hepatitis
Obesity OMIM:234350
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Recurrent staphylococcal infections, Men... ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233690
Idiopathic Bronchiectasis
Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Failure to thrive, Recurrent viral infections OMIM:618048
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent urinary tract infections, Failure to thrive, Recurr... OMIM:613179
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, Rec... ORPHA:486
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Recurrent upper respiratory tract infections, Recurrent otitis media, Increased body weight ORPHA:589905
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight OMIM:614450
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Failure to thrive, Recurrent bacterial in... ORPHA:331206
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Chronic oral candidiasis, Recurrent bacterial infections, Recu... OMIM:606367
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Recurrent bacterial infections, Recurrent upper respiratory tract infecti... OMIM:616005
Omenn Syndrome
Recurrent bacterial infections, Failure to thrive, Recurrent viral infections, Recurrent fungal i... OMIM:603554
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Chronic oral candidiasis, Failure to thrive, Recurrent bacterial infect... OMIM:308230
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Immunodeficiency 21
Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterium avium complex in... OMIM:614172
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Immunodeficiency 23
Persistent EBV viremia, Severe varicella zoster infection, Recurrent Staphylococcus aureus infect... OMIM:615816
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Leptin Receptor Deficiency
Obesity, Recurrent upper respiratory tract infections OMIM:614963
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:306400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Macrocephaly/Autism Syndrome
Large for gestational age, Recurrent otitis media, Overgrowth, Recurrent infections, Obesity OMIM:605309
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Severe cytomegalovirus infection, Molluscum contagiosum OMIM:300291
Pgm3-Cdg
Recurrent fungal infections, Recurrent pneumonia, Recurrent bacterial infections, Failure to thri... ORPHA:443811
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia ORPHA:254534
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Mirage Syndrome
Recurrent bacterial infections, Decreased body weight, Sepsis, Recurrent urinary tract infections OMIM:617053
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent bacterial infections, Failure t... OMIM:102700
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Failure to thrive, Recurrent bacterial infections, Recurrent ... OMIM:612541
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent... ORPHA:221139
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infect... OMIM:608233
Infantile Systemic Hyalinosis
Failure to thrive, Recurrent bacterial infections ORPHA:2176
Postinfectious Vasculitis
Recurrent mycobacterial infections, Severe Epstein Barr virus infection, Severe varicella zoster ... ORPHA:48435
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Dorsocervical fat pad OMIM:615830
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Vici Syndrome
Chronic mucocutaneous candidiasis, Failure to thrive, Recurrent bacterial infections, Recurrent v... OMIM:242840
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Chromomycosis
Recurrent bacterial infections ORPHA:182
Narcolepsy 7
Obesity OMIM:614250
Ch├ędiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent streptococcal infections, Recurrent staphylococcal... ORPHA:167
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Recurrent bacterial infections OMIM:615895
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Cystic Fibrosis
Recurrent Haemophilus influenzae infections, Recurrent Staphylococcus aureus infections, Recurren... ORPHA:586
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media ORPHA:244
Whim Syndrome
Recurrent pneumonia, Recurrent bacterial infections, Recurrent upper respiratory tract infections... ORPHA:51636
Immunodeficiency 87 And Autoimmunity
Persistent EBV viremia, Sepsis, Small for gestational age, Recurrent bacterial infections, Recurr... OMIM:619573
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Wilson Disease
Failure to thrive, Weight loss, Increased body weight ORPHA:905
Immunodeficiency 47
Failure to thrive, Recurrent bacterial infections, Recurrent infections OMIM:300972
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight ORPHA:263455
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Congenital Analbuminemia
Small for gestational age, Obesity, Recurrent lower respiratory tract infections ORPHA:86816
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Recurrent infections OMIM:214500
Insulinoma
Increased body weight ORPHA:97279
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Failure to thrive, Recurrent viral infections, Sepsis ORPHA:811
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurr... ORPHA:2968
Primary Pigmented Nodular Adrenocortical Disease
Abnormal subcutaneous fat tissue distribution, Increased body weight, Abdominal obesity, Dorsocer... ORPHA:189439
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Recurrent infections, Increased body weight ORPHA:264580
Sotos Syndrome
Overgrowth, Tall stature, Increased body weight OMIM:117550
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased body weight, Abdominal obesity, Dorsocervical fat pad ORPHA:189427
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent infections, Increased body weight ORPHA:79240
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Recurrent respiratory infections, Abdominal obesity, Increased body weight ORPHA:398069
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Recurrent bacterial infections ORPHA:79259
Adrenocortical Carcinoma
Weight loss, Increased body weight ORPHA:1501
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Failure to thrive, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent in... ORPHA:2273
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Lysinuric Protein Intolerance
Failure to thrive, Recurrent bacterial infections ORPHA:470
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Weight loss ORPHA:171
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Weight loss, Increased body weight ORPHA:2298
Cushing Disease
Recurrent cutaneous fungal infections, Truncal obesity, Abdominal obesity, Increased body weight ORPHA:96253
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Syndrome Due To Ectopic Acth Secretion
Recurrent cutaneous fungal infections, Weight loss, Truncal obesity, Abdominal obesity, Increased... ORPHA:99889
Carney Complex
Increased body weight, Abdominal obesity, Tall stature, Dorsocervical fat pad ORPHA:1359
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642
Intellectual Developmental Disorder, Autosomal Recessive 41
Recurrent pneumonia OMIM:615637
Macrocephaly-Developmental Delay Syndrome
Recurrent pneumonia ORPHA:397612

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.

Phenotype Allele Zygosity Sex Life Stage
Ovary - hyperplasia Kptntm1a(EUCOMM)Wtsi HOM Early adult
Lymph node - hyperplasia Kptntm1a(EUCOMM)Wtsi HOM Early adult

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 Kptn.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Kptntm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Kptntm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)