Pah-KO

Nomenclature

C57BL/6Smoc-Pahem1Smoc

Cat. NO.

NM-KO-2110565

Strain State

Repository Live

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Gene Summary

Gene Symbol
Pah

Synonyms

AW106920

NCBI ID

18478

MGI ID

97473

Ensembl ID

ENSMUSG00000020051

Pubmed

Pah

Human Ortholog

PAH

Model Description

Exon 2-5 of pah gene was deleted to generate pah knockout mice.

Disease Connection

Phenylketonuria

Phenotype(s)

MGI:6715269

Reference(s)

Singh K, et al., CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria. Sci Rep. 2021 Mar 31;11(1):7254

Validation Data

image.png

Fig1. Characterization of WT C57BL/6 and Pah-KO mice. 

(A) The Pah-KO mice showed lower body weights than the WT mice (n=20/group). (B) Summary of blood Phe at various timepoints is shown (n=20/group). (C) Summary of blood Tyr at various timepoints is shown (n=20/group). Note: Data from the third party.

image.png

Fig2. Hair coat color in WT C57BL/6 and Pah-KO mice. 

Hair coat of the Pah-KO mouse is light brown whereas it is dark brown for the WT C57BL/6 mouse.

Note: Data from the third party.

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