Knock-in of a nucleic acid alteration reported as c.4486T>G/p.F1406C in the mouse ortholog of the human CACNA1A gene (PMID:25109669). Figure 1c of this publication provides the sequence reference frame of GTTCTTCCACT, where the underscored T is replaced with a G. This correlates with NM_007578.3:c.4064T>G/p.(Phe1355Cys) in the mouse and NM_023035.3:c.4220T>G/p.(Phe1407Cys) in humans, using the longest known isoform RefSeqs per HGVS nomenclature rules. The original report of c.4486T>G/p.F1406C cannot be reconciled; see LUMC Mutalyzer analyses below.
Rose SJ, Kriener LH, Heinzer AK, Fan X, Raike RS, van den Maagdenberg AM, Hess EJ. The first knockin mouse model of episodic ataxia type 2. Exp Neurol. 2014 Nov;261:553-62. doi: 10.1016/j.expneurol.2014.08.001. Epub 2014 Aug 8. (Medline PMID: 25109669)
|Viability and Fertility:||Female||Male||Comments|
|Homozygotes are viable:||Yes||Yes|
|Homozygotes are fertile:||Yes||Yes|
|Heterozygotes are fertile:||Yes||Yes|
|Age Reproductive Decline:||Undetermined||Undetermined|
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