Phenotype Image Detail

Image

Caption

Kidney and liver pathology and ultrastructure on different dietary regimens. (A) Kidney ultrastructure on a regular diet (RD) at the age of 9 mo. The proximal tubule brush border, nuclei, and mitochondria have normal appearance, density, and cristae formation in the heterozygous Mmut^tm1Cpv/Mmut⁺ Tg(Alb-Mut)#Cpv/0 (Mut^*/-;TgINS-Alb-Mut) female mice (Left), whereas proximal tubules of Mmut^tm1Cpv/Mmut^tm1Cpv Tg(Alb-Mut)#Cpv/0 (Mut^-/-;TgINS-Alb-Mut) mice exhibit disfigured nuclei, increased mitochondrial number and size, decreased matrix density, and rarefication of their cristae. The inset and arrow highlight mitochondria with multiple matrix granules/ deposits (Right). (Scale bars: 1 um.) Distal tubules and glomeruli had a normal appearance. The histologyof the liver, pancreas, spleen, heart, muscle, and brain showed no significant changes between homozygous and heterozygous animals when they were maintained on regular chow. (B) Liver pathology and ultrastructure after a dietary challenge with high protein for 6 months. No significant differences were observed between the livers of the heterozygote animals and homozygous mice. It is important to emphasize that the hepatic histology and ultrastructure were preserved in the mutant animals despite the presence of massively elevated plasma MMA levels (> 1,000 X normal).

Copyright

This image is from Manoli I, Proc Natl Acad Sci U S A 2013 Aug 13;110(33):13552-7. Copyright 2013 National Academy of Sciences, U.S.A. J:200689

Associated Alleles

Symbol	Name
Mmut^tm1Cpv	methylmalonyl-Coenzyme A mutase; targeted mutation 1, Charles P Venditti
Tg(Alb-Mut)#Cpv	transgene insertion, Charles P Venditti

Associated Genotypes

Allelic Composition	Genetic Background
Mmut^tm1Cpv/Mmut^tm1Cpv Tg(Alb-Mut)#Cpv/0	involves: C57BL/6