Cacna1f <sup>csnb</sup> (calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant)

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Gene: Cacna1f ^csnb (calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant) Rattus norvegicus

Symbol:	Cacna1f ^csnb
Name:	calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant
RGD ID:	13782372
Description:	A naturally-occurring mutation in Cacna1f was identified in a male Sprague Dawley rat with the phenotype of congenital stationary night blindness.Sequence analysis revealed a point mutation of C to T at position 2941, which changes codon 981 from arginine (CGA) to a stop codon (TGA). This R981Stop point mutation was predicted to lead to a version of protein shortened by a total of 999 amino acids, and missing the C-terminal and, in particular, part of the third and all of the fourth ion transport domains. ASSOCIATED WITH abnormal b-wave amplitude; abnormal cone electrophysiology; abnormal mechanical nociception; ASSOCIATED WITH congenital stationary night blindness
Type:	allele of Cacna1f
Previously known as:	Cacna1f ^[csnb]
Is Marker For:	Strains: SD-Cacna1f ^csnb
Latest Assembly:	mRatBN7.2 - mRatBN7.2 Assembly
Position:	No map positions available.

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Mammalian Phenotype

References

References - curated

#	Reference Title	Reference Citation
1.	Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness.	An J, etal., Gene. 2015 May 15;562(2):210-9. doi: 10.1016/j.gene.2015.02.073. Epub 2015 Mar 4.
2.	Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation.	An J, etal., J Neurogenet. 2012 Sep;26(3-4):363-73. doi: 10.3109/01677063.2012.684416. Epub 2012 Jul 16.
3.	A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness.	Gu Y, etal., Mol Vis. 2008 Jan 9;14:20-8.
4.	Visual signal pathway reorganization in the Cacna1f mutant rat model.	Tao Y, etal., Invest Ophthalmol Vis Sci. 2013 Mar 19;54(3):1988-97. doi: 10.1167/iovs.12-10706.
5.	Retinal horizontal cells reduced in a rat model of congenital stationary night blindness.	Zheng L, etal., Neurosci Lett. 2012 Jul 11;521(1):26-30. doi: 10.1016/j.neulet.2012.05.049. Epub 2012 May 24.

Genomics

Related Rat Strains

The following Strains have been annotated to Cacna1f ^csnb

SD-Cacna1f ^csnb

Expression

RNA-SEQ Expression

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Sequence

Nucleotide Sequences

Additional Information

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