Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Apoa1m1Pgrs
Name:	apolipoprotein A-I; mutation 1, Phillipe Gros
MGI ID:	MGI:6307002
Synonyms:	ApoA166-67TT
Gene:	Apoa1  Location: Chr9:46139928-46141767 bp, + strand  Genetic Position: Chr9, 25.36 cM, cytoband A2-A4
Alliance:	Apoa1m1Pgrs page

Strain of Origin:

BcA68/Pgrs

Allele Type:    Spontaneous (Null/knockout) Mutation:    Nucleotide substitutions   Mutation details: Sequence analyses identified two consecutive point mutations in exon 3 of the ApoA1 gene of the BcA68 recombinant inbred strain: a G>T transition at the third position of codon 22 (TGG), producing a tryptophan to cysteine missense (W22C); and a C>T transition at position 1 of codon 23 (CAG), which replaces a glutamine by a stop (Q23Stop) (Figure 6C). The presence of these mutations predicts the synthesis of a truncated 22aa ApoA1 protein in the recombinant strain in place of the wild-type 264aa protein; however, no ApoA1 protein was detected in this strain. (J:191338)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Apoa1 Mutation:	16 strains or lines available

Original:	J:191338 Wiltshire SA, et al., Genetic control of high density lipoprotein-cholesterol in AcB/BcA recombinant congenic strains of mice. Physiol Genomics. 2012 Sep 1;44(17):843-52
All:	2 reference(s)