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

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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
Is Marker For:	Strains: SD-Cacna1f ^csnb
Latest Assembly:	mRatBN7.2 - mRatBN7.2 Assembly
Position:	No map positions available.

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

congenital stationary night blindness (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Mammalian Phenotype

abnormal b-wave amplitude (IAGP)

abnormal cone electrophysiology (IAGP)

abnormal mechanical nociception (IAGP)

abnormal retina horizontal cell morphology (IAGP)

absent b-wave (IAGP)

decreased a-wave amplitude (IAGP)

decreased grip strength (IAGP)

impaired skeletal muscle contractility (IAGP)

thin retina outer plexiform layer (IAGP)

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

Sequence

Nucleotide Sequences

Additional Information

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Mammalian Phenotype