RGD Reference Report - Rat mutations cvd and hob with cerebellar malformations map to chromosome 2. - Rat Genome Database

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Rat mutations cvd and hob with cerebellar malformations map to chromosome 2.

Authors: Kuwamura, M  Ando, Y  Takada, A  Kanehara, T  Yamate, J  Kotani, T  Takeshita, S  Kanbori, M  Kitada, K  Serikawa, T 
Citation: Kuwamura M, etal., Exp Anim 2004 Jan;53(1):21-6.
RGD ID: 1302461
Pubmed: PMID:14993736   (View Abstract at PubMed)

In this paper, we executed genome mapping and comparative mapping analyses for cvd and hob, autosomal recessive mutations with cerebellar vermis defect and cerebellar dysplasia in the rat. For the linkage analysis, we produced three sets of backcross progeny, (ACI x CVD)F(1) and (F344 x CVD)F(1) females crossed to a cvd homozygous male rat, and (HOB x WKY)F(1) males crossed to hob homozygous female rats. Analysis of the segregation patterns of simple sequence length polymorphism (SSLP) markers scanning the whole rat genome allowed the mapping of these autosomal recessive mutations to rat Chromosome (Chr) 2. The most likely gene order is D2Mgh12 - D2Rat86 - D2Mit15 - D2Rat185 - cvd - D2Rat66 - D2Mgh13, and D2Mit18 - Fga -D2Mit14 - D2Rat16 - hob - D2Mgh13. Crossing test between a proven cvd heterozygous and a hob heterozygous rats demonstrated their allelism. Furthermore, comparative mapping indicated the cvd locus corresponds to mouse chromosome 3 and a strong candidate gene Unc5h3, a causative gene for the rostral cerebellar malformation mouse, was implicated.



Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
F344.CVD-Unc5ccvd/KyoRatabsent cerebellum vermis  IAGP  RGD 
HOB-Unc5chob/SnkRatabsent cerebellum vermis  IAGP  RGD 
HOB/SnkRatabsent cerebellum vermis  IAGP  RGD 
Unc5cRatabsent cerebellum vermis  IAGP  RGD 
Unc5ccvdRatabsent cerebellum vermis  IAGP  RGD 
Unc5chobRatabsent cerebellum vermis  IAGP  RGD 
Objects Annotated

Genes (Rattus norvegicus)
Unc5c  (unc-5 netrin receptor C)
Unc5ccvd  (unc-5 netrin receptor C; cerebellar vermis defect)
Unc5chob  (unc-5 netrin receptor C; hobble mutant)

Strains
F344.CVD-Unc5ccvd/Kyo  (NA)
HOB-Unc5chob/Snk  (hobble rat)
HOB/Snk  (hobble rat)


Additional Information