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Gene: Mad2l1bp MGI:1913841

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
MAD2L1 binding protein
Synonyms:
2510031P20Rik,  0610009D16Rik,  CMT2B,  CMT2A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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 Mad2l1bp 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 Mad2l1bp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenome... OMIM:613027
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Mild postnatal growth retardation, Hyper... ORPHA:456312
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci... ORPHA:101330
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Diaphanospondylodysostosis
Abnormal liver lobulation, Intrauterine growth retardation, Inguinal hernia, Disproportionate sho... OMIM:608022
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Hepatic melanin-like lysos... OMIM:208085
Mosaic Trisomy 9
Camptodactyly of finger, Asplenia, Cryptorchidism, Patent ductus arteriosus, Abnormal liver lobul... ORPHA:99776
Fanconi Anemia, Complementation Group C
Short stature, Cryptorchidism, Flexion contracture, Prolonged G2 phase of cell cycle, Intrauterin... OMIM:227645
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Fanconi Anemia, Complementation Group E
Cryptorchidism, Short stature, Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group D2
Short stature, Cryptorchidism, Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Annula... OMIM:227646
Fanconi Anemia, Complementation Group A
Cryptorchidism, Short stature, Prolonged G2 phase of cell cycle OMIM:227650
Liver Disease, Severe Congenital
Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepatic steatosi... OMIM:619991
Sarcoidosis
Hepatomegaly, Scarring, Portal hypertension, Abnormal liver parenchyma morphology, Decreased live... ORPHA:797
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Abnormal subcutaneous ... ORPHA:79318

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 Mad2l1bp

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 Mad2l1bp.

No publications found that use IMPC mice or data for Mad2l1bp.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mad2l1bptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mad2l1bptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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