Gene Summary

Name:
protocadherin beta 13
Synonyms:
Pcdbh6,  PcdhbM

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
enlarged lymph nodes Pcdhb13em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Pcdhb13em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating cholesterol level Pcdhb13em1(IMPC)Tcp HOM Early adult 3.88×10-07
decreased body length Pcdhb13em1(IMPC)Tcp HOM   Early adult 6.67×10-05
enlarged urinary bladder Pcdhb13em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating HDL cholesterol level Pcdhb13em1(IMPC)Tcp HOM   Early adult 2.94×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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.

Eye Morphology

Images Ophthalmoscopy

101 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Slit Lamp

63 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Pcdhb13 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 Pcdhb13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Hypocholesterolemia, Hypersplenism, Erlenmeyer flask deformity of the... OMIM:610539
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Squalene Synthase Deficiency
Increased circulating farnesol concentration, 2-3 toe syndactyly, Elevated circulating methylsucc... OMIM:618156
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hypertrigly... ORPHA:31150
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micropenis, Hypocholesterolemia, Hepatomegaly OMIM:618810
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration ORPHA:79292
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Neurogenic bladder, Hyp... ORPHA:96180
Congenital Disorder Of Glycosylation, Type Ia
Renal cyst, Nephrotic syndrome, Proteinuria, Proximal tubulopathy, Hepatomegaly, Hypoalbuminemia,... OMIM:212065
Alg12-Cdg
Hyponatremia, Micropenis, Sandal gap, Clinodactyly of the 5th finger, Overlapping fingers, Long f... ORPHA:79324
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Abetalipoproteinemia
Hypotriglyceridemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperbilirubinemia, H... ORPHA:14
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Elevated 7-dehydrocholesterol, Hammertoe, Hydronephrosis, Short thumb,... OMIM:270400
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Kaufman Oculocerebrofacial Syndrome
Clinodactyly of the 5th finger, Hypocholesterolemia, Congenital hip dislocation, Metatarsus adductus OMIM:244450
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Increased circulating inosine concentration, Hypouricemia, Lymph node hypoplasia, I... OMIM:613179
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia, Hepatomegaly ORPHA:276
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Craniorachischisis
Bifid sternum ORPHA:63260
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Coffin-Lowry Syndrome
Narrow iliac wing, Coxa valga, Short metacarpal, Tapered finger, Hyperextensibility of the finger... OMIM:303600

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 Pcdhb13

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 Pcdhb13.

No publications found that use IMPC mice or data for Pcdhb13.

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MGI Allele Allele Type Produced
Pcdhb13em1(IMPC)Tcp Intra-exon deletion Mice

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