https://www.phenogenomics.cz/mouse-models/c57bl-6ncrl-aspaem1g274rccpcz/
C57BL/6NCrl-Aspaem1(G274R)Ccpcz - Czech Centre for Phenogenomics
Description Aspartoacylase (EC 3.5.1.15), also called aminoacylase-2, is an enzyme that hydrolyzes N-acetyl-L-aspartic acid (NAA) to aspartate and acetate.
czechcentrephenogenomics
https://www.phenogenomics.cz/rare-diseases/netherton-syndrome/
Netherton Syndrome - Czech Centre for Phenogenomics
Autosomal recessive disease caused by biallelic loss-of-function variants in SPINK5, encoding the serine-protease inhibitor LEKTI.
netherton syndromeczechcentrephenogenomics