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Ccrs4BTBR T-+- Itpr3-tf/J
QTL Variant Detail
Nomenclature
QTL variant: Ccrs4BTBR T-+- Itpr3-tf/J
Name: corpus callosum hemisphere surface size 4; BTBR T-+- Itpr3-tf/J
MGI ID: MGI:3828830
QTL: Ccrs4  Location: unknown  Genetic Position: ChrX, Syntenic
Variant
origin
Strain of Specimen:  BTBR T+ Itpr3tf/J
Variant
description
Allele Type:    QTL
Mutation:    Undefined
    This allele confers increased incidence of corpus callosum agenesis compared to BALB/cByJ. (J:137289)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
Notes

Mapping and Phenotype information for this QTL, its variants and associated markers

J:137289

Inbred strain BTBR T+ tf/J displays total absence of the corpus callosum and severely reduced hippocampal commissure while inbred strain BALB/cByJ displays consistently normal hippocampal commissure and a low incidence of agenesis of the corpus callosum. F1 crosses between BTBR T+ tf/J and BALB/cByJ indicate the phenotype is X-linked. Male (BTBR T+ tf/J x BALB/cByJ)F1 animals displayed a higher incidence of corpus callosum abnormalities compared to male (BALB/cByJ x BTBR T+ tf/J)F1 animals suggesting susceptibility to corpus callosum agenesis is contributed by the BTBR strain. Hippocampal commissure size did not appear to correlate with X chromosome inheritance.

A population of 420 males derived from (BALB/cByJ x BTBR T+ tf/J)F1 backcrossed to BALB/cByJ or BTBR T+ tf/J were used to map the corpus callosum locus by identifying X chromosome recombination events. Animals were phenotyped at 8 weeks of age. Significant linkage to corpus callosum size mapped to 29.5 cM (68.5 Mb) near rs13483824 (LRS=9.8) and is named Ccrs3 (corpus callosum hemisphere surface size 3). Highly significant linkage to corpus callosum size mapped to 60.5 cM (134.5 Mb) near rs13484035 (LRS=12.4) and is named Ccrs4 (corpus callosum hemisphere surface size 4). BTBR-derived alleles at Ccrs3 and Ccrs4 confer decreased corpus callosum size with dominant inheritance. L1cam (29.5 cM) is a potential candidate gene for Ccrs3 while Dcx (140.29 Mb) is a potential candidate gene for Ccrs4.

References
Original:  J:137289 Kusek GK, et al., Localization of two new X-linked quantitative trait loci controlling corpus callosum size in the mouse. Genes Brain Behav. 2007 Jun;6(4):359-63
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/28/2022
MGI 6.20
The Jackson Laboratory