Cit<sup>fhJjlo</sup> (citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo) - Rat Genome Database

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Gene: CitfhJjlo (citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo) Rattus norvegicus
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Symbol: CitfhJjlo
Name: citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo
RGD ID: 13204831
Description: Spontaneous single G deletion in exon 1 of citron kinase (Cit)confers a premature stop codon and lack of citron kinase protein.
ASSOCIATED WITH binucleate; decreased forebrain size; flat head; ASSOCIATED WITH epilepsy; microcephaly; visual epilepsy
Type: allele  of Cit  
Previously known as: Cit^[fhJjlo]; CitfhJjlo
Is Marker For: Strains:   WI-CitfhJjlo/Rrrc  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position: No map positions available.


Disease Annotations     Click to see Annotation Detail View
epilepsy  (IAGP)
microcephaly  (IAGP)
visual epilepsy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. Characterization of seizures in the flathead rat: a new genetic model of epilepsy in early postnatal development. Sarkisian MR, etal., Epilepsia. 1999 Apr;40(4):394-400.
2. Citron-kinase, a protein essential to cytokinesis in neuronal progenitors, is deleted in the flathead mutant rat. Sarkisian MR, etal., J Neurosci. 2002 Apr 15;22(8):RC217. Epub 2002 Apr 2.

Genomics

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
CitfhJjlo-var1 chr12 40763699 40763699 C - deletion mRatBN7.2
CitfhJjlo-var1 chr12 46493042 46493042 C - deletion Rnor_6.0

Related Rat Strains
The following Strains have been annotated to CitfhJjlo


Expression


Sequence

Nucleotide Sequences


Additional Information