Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

phosphatidylinositol-5-phosphate 4-kinase, type II, beta
Pip5k2b,  PI5P4Kbeta,  c11

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Pip4k2b 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 Pip4k2b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Acromesomelic Dysplasia 2A
Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p... OMIM:200700
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body... OMIM:184255
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... OMIM:609324
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Abnorm... ORPHA:94068
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Abnormal sacrum morphology, Coxa v... ORPHA:1988
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Epiphyseal Dysplasia, Multiple, 1
Pes planus, Short metacarpal, Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Avas... OMIM:132400
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Abnormal intervertebral disk morphology, Lumbar hyperlo... ORPHA:99642
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Sclerotic vertebr... OMIM:615198
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossif... OMIM:618392
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... OMIM:108720
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Ossification Of The Posterior Longitudinal Ligament Of Spine
Diabetes mellitus, Ectopic ossification, Increased bone mineral density, Abnormality of the verte... OMIM:602475
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Short neck, Osteoporosis, Delayed thelarc... OMIM:616033
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Short phalanx of finger, Hypoplastic cer... ORPHA:56304
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Inguinal hernia, Thoracic scoliosis, Rhizomelia, Short femur, Micromeli... OMIM:613848
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Genu varum, Patellar hypopl... OMIM:609325
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Short neck, Multiple prenat... OMIM:616897
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... ORPHA:166011
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Kyphosis... ORPHA:3344
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity OMIM:618406
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Fasting hyperinsu... OMIM:619489
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... ORPHA:157965
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... ORPHA:93333
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Short femur, Foot oligodactyly, Scoliosis, Amelia OMIM:601357
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small... ORPHA:93356
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... OMIM:147750
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Coxa vara, Abnormal shoulder morphology, Ir... ORPHA:1159
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Small for gestational age, Hypoglycemia, Rhizomelia, Sandal gap, Hypo... OMIM:607143
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Hip dislocation, Ob... OMIM:618395
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ... ORPHA:324575
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Short toe, Hyperinsulinemia, Obesity, Ty... ORPHA:3085
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... OMIM:602111
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu... OMIM:602557
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Hyperparathyroidism, Short femur, Recurrent fractures, Metaphyseal s... OMIM:618188
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... OMIM:313400
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... OMIM:307800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ... OMIM:608612
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Hyperin... OMIM:619326
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... OMIM:249700
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fas... ORPHA:276575
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... OMIM:210710
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Short clavicles, Short distal phala... OMIM:248370
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Osteoporos... ORPHA:785
Estrogen Resistance
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... OMIM:615363
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Epiphyseal Dysplasia, Baumann Type
Joint laxity, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Absent metacarpal... OMIM:610797
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Catel-Manzke Syndrome
Joint laxity, Short humerus, Inguinal hernia, Short metacarpal, Short femur, Short neck, Microgna... OMIM:616145
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... OMIM:609441
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Inguinal hernia, Short metacarpal, Radial bowing, Recurrent fractures, ... OMIM:610915
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... OMIM:617952
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac... OMIM:618019
Congenital Generalized Lipodystrophy
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Long foot, Adipose tissue loss, ... ORPHA:528
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Lumbar hyperlordosis, Aplasia/Hypoplasia of the clavi... ORPHA:2839
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... ORPHA:2502
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, ... ORPHA:3455
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Hypoglycemia, Flexion contracture, Polydactyly, Failure to thrive ORPHA:17
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Osteoarthritis, Fasting hy... ORPHA:2298
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pancreatic islet-... ORPHA:263455
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Short ne... ORPHA:508488
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Joint hypermobility, Genu valgum OMIM:617798
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Lipodystrophy, Hyperlordosis, Spinal rigidity, Insulin resistance, Flexion contractur... OMIM:613327
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Large hands, Pancreatic islet-cell hyp... OMIM:246200
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Ab... OMIM:264090
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Short 5th metacarpal ORPHA:66518
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Deviation of finger, Increased circulatin... ORPHA:1227
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogo... OMIM:176270
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia, Micrognathia ORPHA:2849
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Talipes, Micrognathia, Short neck, Talipes equinovarus, Broad distal pha... OMIM:300990
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Maternal diabetes, Micrognathia, Hemivertebrae, ... OMIM:134780
Solitary Fibrous Tumor
Low back pain, Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoi... ORPHA:2126
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... OMIM:276820
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... ORPHA:79237
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn... ORPHA:666
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... ORPHA:300373
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... ORPHA:79474
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal form of the vertebral bo... ORPHA:2769
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsu... ORPHA:79086
Alstrom Syndrome
Pes planus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... OMIM:203800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm... ORPHA:2636
Tenorio Syndrome
Osteopenia, Joint laxity, Hypoglycemia, Scoliosis, Hypoinsulinemia OMIM:616260
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes mellitus, Lipodystroph... OMIM:608594
Myhre Syndrome
Vertebral fusion, Small for gestational age, Overlapping toe, Joint stiffness, Short neck, Hypopl... OMIM:139210
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger OMIM:618367
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Lipodystrophy, Reduced intraabd... OMIM:269700
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Glucose intolerance, Hashimot... ORPHA:99413
Turner Syndrome
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Glucose intolerance, Hashimot... ORPHA:881
Mosaic Monosomy X
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Glucose intolerance, Hashimot... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Glucose intolerance, Hashimot... ORPHA:99226
Reduced subcutaneous adipose tissue, Long foot, Insulin resistance, Hyperinsulinemia, Central hyp... ORPHA:508
Atelis Syndrome 2
Pes planus, Sacral dimple, Micrognathia, Kyphosis, Elevated circulating thyroid-stimulating hormo... OMIM:620185
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... ORPHA:3464
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Osteopenia, Joint laxity, Pes planus, Multiple joint contractures, Lipodystrophy, Hypogonadotropi... ORPHA:79318
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64


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 Pip4k2b

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 Pip4k2b.

No publications found that use IMPC mice or data for Pip4k2b.

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MGI Allele Allele Type Produced
Pip4k2btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pip4k2btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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