Gene Summary

Name:
partner and localizer of BRCA2
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 circulating free fatty acids level Palb2tm1.1(KOMP)Vlcg HET Early adult 7.40×10-05
embryonic lethality prior to tooth bud stage Palb2tm1.1(KOMP)Vlcg HOM   E12.5 0.00
preweaning lethality, complete penetrance Palb2tm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased circulating insulin level Palb2tm1.1(KOMP)Vlcg HET Early adult 8.22×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
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)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Gut N/A heterozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (1 of 1)
Stomach N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (1 of 1)
Umbilical vein embryonic part N/A heterozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
bone marrow 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
epididymis 14.48% (21 of 145)
esophagus 1.69% (7 of 414)
eye 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
submandibular gland 1.39% (2 of 144)
testis 1.02% (6 of 590)
thalamus 0.0%
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
urinary bladder 0.0%
uterus 0.34% (2 of 589)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.25% (6 of 479)
dorsal root ganglion 1.75% (1 of 57)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
fronto-nasal process 1.82% (1 of 55)
gut 1.75% (1 of 57)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
nose 1.41% (1 of 71)
oral cavity 0.21% (1 of 470)
skin 0.21% (1 of 474)
spinal cord 1.45% (1 of 69)
stomach 2% (1 of 50)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)
umbilical artery embryonic part 1.72% (1 of 58)
umbilical vein embryonic part 1.75% (1 of 57)

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 Skull Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Section

31 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Sleep Wake

Wake state (bmp file)

2 Images

X-ray

XRay Images Forepaw

11 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Human diseases caused by Palb2 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 Palb2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fanconi Anemia
Hydrocephalus, Patent ductus arteriosus, Umbilical hernia, Spina bifida, Intrauterine growth reta... ORPHA:84
Familial Pancreatic Carcinoma
Diabetes mellitus ORPHA:1333
Hereditary Breast And Ovarian Cancer Syndrome
ORPHA:145
Breast Cancer
OMIM:114480
Fanconi Anemia, Complementation Group N
OMIM:610832

The table below shows human diseases predicted to be associated to Palb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Ket... ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone concentration, Hyper... ORPHA:280356
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276580
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276575
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Hypertriglyceridemia, Insulin-res... OMIM:604367
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus OMIM:616033
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Mody
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Hyperinsulinemi... ORPHA:552
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus,... ORPHA:2457
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hyperinsulinemia, Hypoglycemia, Hypercholesterolemia ORPHA:79237
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Hypertriglyceridemia, Diabetes mellitus, Insulin... ORPHA:528
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin... ORPHA:2298
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplas... OMIM:246200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyper... OMIM:608612
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic s... ORPHA:71212
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Acquired Generalized Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mel... OMIM:151660
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Steatorrhea OMIM:602579
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus... OMIM:248370
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... ORPHA:769
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia OMIM:613327
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Prader-Willi Syndrome
Adrenal insufficiency, Precocious puberty, Type II diabetes mellitus, Hyperinsulinemia, Decreased... OMIM:176270
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hypertr... OMIM:608594
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Insulin resistance, Increased circulating renin lev... ORPHA:508
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Decreased serum leptin, Insulin-resistant diabetes m... OMIM:269700
Atypical Werner Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Glycosuria, Hypertriglyceridemia, Abnormality of cir... ORPHA:79474
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia ORPHA:2126
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... ORPHA:99413
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Liver Disease, Severe Congenital
Hyperinsulinemic hypoglycemia OMIM:619991
Alström Syndrome
Precocious puberty in females, Decreased circulating T4 concentration, Type II diabetes mellitus,... ORPHA:64
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Pmm2-Cdg
Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonadotropic hypogonadis... ORPHA:79318
Fanconi Anemia
Hydrocephalus, Patent ductus arteriosus, Umbilical hernia, Spina bifida, Intrauterine growth reta... ORPHA:84
Familial Pancreatic Carcinoma
Diabetes mellitus ORPHA:1333
Fanconi Anemia, Complementation Group N
OMIM:610832
Hereditary Breast And Ovarian Cancer Syndrome
ORPHA:145
Breast Cancer
OMIM:114480

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 Palb2

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 Palb2.

No publications found that use IMPC mice or data for Palb2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Palb2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Palb2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Palb2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Palb2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Palb2tm96762(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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