How many polymorphic coding non-synonymous SNPs are there for mouse Abcc6 betwee

Question

How many polymorphic coding non-synonymous SNPs are there for mouse Abcc6 between C57BL/6J and KK/HIJ? Based on the responses below, what hypothesis could you make about phenotypes associated with these two strains? Can you find any publications that support that hypothesis?

(RESPONSES)

- According to UniProt, what amino acid is glycosylated in the multidrug resistance-associated protein 6 (ABCC6) protein? Asparagine

- What human disease is associated with mutations in this gene? Pseudoxanthoma elasticum (PXE)

UniProt info on gene ABCC6: https://www.uniprot.org/uniprot/O95255

Explanation / Answer

There are three non-synonymous SNPs between C57BL/6J and KK/HIJ. The hypothesis about phenotypes associated with these two strains is:

These two strains mutation could have effect phenotype. These non-synonymous SNPs could serve as extra Pseudoxanthoma elasticum model.

Reference:

Mouse genome-wide association study identifies polymorphisms on chromosomes 4, 11 and 15 for age-related cardiac fibrosis, Mamm Genome. 2016 Jun; 27(5-6): 179–190.

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