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
preweaning lethality, complete penetrance Palb2tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased exploration in new environment Palb2tm1.1(KOMP)Vlcg HET Early adult 9.81×10-05
embryonic lethality prior to tooth bud stage Palb2tm1.1(KOMP)Vlcg HOM   E12.5 0.00
increased circulating insulin level Palb2tm1.1(KOMP)Vlcg HET Early adult 8.36×10-06
decreased circulating free fatty acids level Palb2tm1.1(KOMP)Vlcg HET Early adult 6.63×10-05

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 584)
aorta 0.17% (1 of 584)
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
stomach 1.85% (1 of 54)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
umbilical artery embryonic part 1.69% (1 of 59)
umbilical vein embryonic part 1.69% (1 of 59)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

12 Images

Adult LacZ

LacZ Images Section

31 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Forepaw

11 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Sleep Wake

Wake state (bmp file)

2 Images

Eye Morphology

Images Slit Lamp

1 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Electroretinography

Rod 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
Spina bifida, Patent ductus arteriosus, Umbilical hernia, Intrauterine growth retardation, Hydroc... 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
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Irritability, Hypoglycemia OMIM:240800
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Aggressive behavior ORPHA:329249
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperi... ORPHA:276608
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Progressive psychomotor deterioration, Hypertriglyceridemia... ORPHA:363400
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Psychomotor deterioration... ORPHA:79237
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, H... OMIM:604367
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Diabeti... ORPHA:99886
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonat... ORPHA:263455
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Mandibuloacral Dysplasia
Hypercholesterolemia, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Insulin-resistan... ORPHA:2457
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Precocious pube... ORPHA:528
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperl... OMIM:608612
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hyperglycemia, Precocious pub... OMIM:246200
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperglycemia,... OMIM:248370
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:79086
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Impaired glucose tolerance, Postprandia... ORPHA:769
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance OMIM:613327
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... OMIM:151660
Prader-Willi Syndrome
Hyperinsulinemia, Self-injurious behavior, Adrenal insufficiency, Delayed puberty, Type II diabet... OMIM:176270
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Aggressive behavior, Secondary hyperparathyroidism, Insu... ORPHA:273
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly ORPHA:2211
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:269700
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Abnormality of circulating leptin level, Neoplasm of ... ORPHA:79474
Turner Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, High urinary gon... ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, High urinary gon... ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, High urinary gon... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, High urinary gon... ORPHA:99413
Tenorio Syndrome
Hypoinsulinemia, Anxiety, Hypoglycemia OMIM:616260
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia ORPHA:2126
Alström Syndrome
Puberty and gonadal disorders, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadi... ORPHA:64
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Insulin resistance, Elevated... ORPHA:79318
Fanconi Anemia
Spina bifida, Patent ductus arteriosus, Umbilical hernia, Intrauterine growth retardation, Hydroc... ORPHA:84
Familial Pancreatic Carcinoma
Diabetes mellitus ORPHA:1333
Breast Cancer
OMIM:114480
Hereditary Breast And Ovarian Cancer Syndrome
ORPHA:145
Fanconi Anemia, Complementation Group N
OMIM:610832

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

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