Pkhd1
ARPKD
Cyli
Hepato-renal fibrocystic disease
Mouse model
Pkhd1
Journal
Journal of molecular medicine (Berlin, Germany)
ISSN: 1432-1440
Titre abrégé: J Mol Med (Berl)
Pays: Germany
ID NLM: 9504370
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
received:
30
06
2023
accepted:
12
07
2023
revised:
30
06
2023
medline:
7
9
2023
pubmed:
16
8
2023
entrez:
16
8
2023
Statut:
ppublish
Résumé
Autosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocystic disorder that causes early childhood morbidity and mortality. Mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene, which encodes the protein fibrocystin/polyductin complex (FPC), cause all typical forms of ARPKD. Several mouse lines carrying diverse, genetically engineered disruptions in the orthologous Pkhd1 gene have been generated, but none expresses the classic ARPKD renal phenotype. In the current study, we characterized a spontaneous mouse Pkhd1 mutation that is transmitted as a recessive trait and causes cysticliver (cyli), similar to the hepato-biliary disease in ARPKD, but which is exacerbated by age, sex, and parity. We mapped the mutation to Chromosome 1 and determined that an insertion/deletion mutation causes a frameshift within Pkhd1 exon 48, which is predicted to result in a premature termination codon (UGA). Pkhd1
Identifiants
pubmed: 37584738
doi: 10.1007/s00109-023-02351-2
pii: 10.1007/s00109-023-02351-2
pmc: PMC10482757
doi:
Substances chimiques
Transcription Factors
0
RNA, Messenger
0
Pkhd1 protein, mouse
0
Receptors, Cell Surface
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1141-1151Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK121530
Pays : United States
Organisme : NIH HHS
ID : DK121530
Pays : United States
Organisme : NIH HHS
ID : GM20919
Pays : United States
Organisme : NIH HHS
ID : RR01183
Pays : United States
Informations de copyright
© 2023. The Author(s).
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