BXD29-Tlr4^lps-2J/J

Stock number: 000029
Product name: defective lipopolysaccharide response, 2J
Research areas: Dermatology Research, Mouse/Human Gene Homologs, Neurobiology Research, Research Tools

Description

Stock No. 000029 has been discontinued. See Stock No. 010981 as possible alternative.

The Tlr4^lps-2Jmutation that occurred in the BXD29 RI strain is characterized by large nodular bilateral subcortical heterotopias with partial callosal agenesis, and exhibit a defect in rapid auditory processing.

Detailed description

The BXD RI strains are used to study the genetics of behavioral phenotypes including alcohol and drug addiction, stress, and locomotor activity. The BXD set of RI strains also is used in the genetic analysis of numerous complex or potentially complex physiologic phenotypes including differences in organ weight and bone mineral density. The strain distribution pattern (SDP) for the BXD RI strains is available through the Mouse Genome Informatics Contributed Data Sets and Gene Network. Additional tools and information are presented through the Mouse Phenome Database Specialized Strain Panel Query Form, and Gene Network. This subline of BXD29/Ty is homozygous for the mutation defective lipopolysaccharide response 2 Jackson, which arose spontaneously in the parental strain. The non-mutant parental strain is available as stock number 010981.

In 2011, a spontaneous mutation, telencephalon midline malformation (tmm), was observed in the BXD29-Tlr4^lps-2J/J strain (Rosen G et al, Cereb Cortex 2012 March 27). The mutation is 100% penetrant on this genetic background and is characterized by large nodular bilateral subcortical heterotopias with partial callosal agenesis. Mice perform similar to wild-type in tests for motor coordination (rotarod) and learning/memory (water maze), but exhibit a defect in rapid auditory processing.

Development

The BXD set of RI strains was developed in the laboratory of Benjamin Taylor and was transferred to The Jackson Laboratory from Dr. Taylor's research colony upon his retirement. Of 42 BXD RI strains originally derived from the C57BL/6J (Stock No. 000664) and DBA/2J (Stock No. 000671), a number have become extinct over the years. The other BXD RI strains now being distributed are listed under "Related Recombinant Inbred Strains."

In 2006 Cook et al. reported finding a spontaneous mutation, Tlr4^lps-2J, in the recombinant inbred BXD29 and the nomenclature has been updated to reflect that finding. The mutation is a large insertion composed primarily of a repetitive sequence near the 3' end of Tlr4. The non-mutant form of this recombinant inbred subline is available as stock #010981.

Allele

Symbol: tmm
Name: telencephalic midline malformation
MGI accession ID: MGI:5320501
Generation method: Spontaneous
Marker symbol: tmm
Marker name: telencephalic midline malformation
Chromosome: UN
Strain of origin: BXD29-Tlr4^lps-2J/J

Allele

Symbol: Tlr4^lps-2J
Name: defective lipopolysaccharide response 2 Jackson
MGI accession ID: MGI:3626283
Generation method: Spontaneous
Marker symbol: Tlr4
Marker name: toll-like receptor 4
Marker synonyms: ARMD10; CD284; lipopolysaccharide response; Lps; Rasl2-8; TLR-4; TOLL
Chromosome: 4
Strain of origin: BXD29-Tlr4^lps-2J/J
Molecular note: Attempts to amplify the segment of exon 3 from the C57BL/6J DNA in the BXD29/TyJ strain representing nucleotides 279 - 708 of the cDNA sequence led to the discovery, near the 3' end of the gene, of a large insertion composed primarily of a repetitive sequence which exists in ~ 200 locations throughout the mouse genome. The insertion also includes a 239-bp sequence identical to a segment of Chr 10 between nucleotides 51,365,897 and 51,366,135 (build not identified). None of the endogenous gene is deleted, but the insertion is flanked at both ends by the same 8-nucleotide sequence (TCTTTCTT). Quantitative RT-PCR analysis detects no reduction in transcribed mRNA in peritoneal macrophages from mutant mice; however, these cells are not stained by antibodies against the encoded protein.
General note: Recombinant inbred strain BXD29 carries this allele.

Allele

Symbol: Myo5a^d
Name: dilute
MGI accession ID: MGI:1856004
Generation method: Spontaneous
Synonyms: blue dilution; d; d^v; Maltese dilution
Marker symbol: Myo5a
Marker name: myosin VA
Marker synonyms: 9630007J19Rik; Dbv; Dop; flail; GS1; MVa; Myh12; MYO5; MyoVA; MYR12; nmf244
Chromosome: 9
Strain of origin: old mutant of the mouse fancy
Molecular note: This mutation is the result of the integration of ecotropic murine leukemia virus Emv-3 into a noncoding region of the Myo5a^d gene. Reversions of Myo5a^d to wild-type are caused by excision of the virus leaving exactly one long terminal repeat in place.