Gene: Pgm1 MGI:97565
Log in to followPhenotypes
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 |
---|---|---|---|---|---|---|
embryonic lethality prior to tooth bud stage | Pgm1em1(IMPC)Bay | HOM | E12.5 | 0.00 | ||
abnormal vocalization | Pgm1em1(IMPC)J | HET | Early adult | 2.42×10-10 | ||
abnormal coat/ hair morphology | Pgm1em1(IMPC)J | HET | Early adult | 3.06×10-07 | ||
preweaning lethality, incomplete penetrance | Pgm1em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
embryonic lethality prior to tooth bud stage | Pgm1em1(IMPC)J | HOM | E12.5 | 0.00 | ||
abnormal forebrain development | Pgm1em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal coat appearance | Pgm1em1(IMPC)J | HET | Early adult | 2.22×10-06 | ||
abnormal embryo size | Pgm1em1(IMPC)J | HOM | E12.5 | 0.00 | ||
preweaning lethality, complete penetrance | Pgm1em1(IMPC)J | HOM | Early adult | 0.00 | ||
preweaning lethality, complete penetrance | Pgm1em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
decreased locomotor activity | Pgm1em1(IMPC)Bay | HET | Early adult | 5.23×10-05 |
Human diseases caused by Pgm1 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 Pgm1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Congenital Disorder Of Glycosylation, Type It | OMIM:614921 |
The table below shows human diseases predicted to be associated to Pgm1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Intellectual Developmental Disorder, X-Linked 110 | Bradykinesia | OMIM:301095 | |
Aprosencephaly Syndrome | Aprosencephaly, Anencephaly | OMIM:207770 | |
Aprosencephaly And Cerebellar Dysgenesis | Aprosencephaly | OMIM:601374 | |
Congenital Disorder Of Glycosylation, Type It | OMIM:614921 |
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 |
---|---|---|
Pgm1tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Pgm1em1(IMPC)Bay | Exon Deletion | Mice |
Pgm1tm41296(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Pgm1em1(IMPC)J | Exon Deletion | Mice |
The IMPC Newsletter
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter