This strain is used in studies of autism because it exhibits several symptoms of autism including: reduced social interactions, impaired play, unusual vocalizations as compared to other inbred strains. BTBR mice exhibit a 100% absence of the corpus callosum and a severely reduced hippocampal commissure.Read More +
BTBR mice exhibit a 100% absence of the corpus callosum and a severly reduced hippocampal commissure (Wahlsten D, 2003 Brain Res). This strain exhibits several symptoms of autism including: reduced social interactions, impaired play, low exploratory behavior, unusual vocalizations and high anxiety as compared to other inbred strains (McFarlane HG, 2008, Gen, Brain Behav; Moy SS, 2007, Behav Br Res, Scattoni ML, 2008, PLos). Diet has been found to impact these phenotypes, levels of neuroinflammation, neurogenesis and synaptic function (Currais et al., 2016, Mol Psych).
The BTBR T+ Itpr3tf/J strain was derived from the inbred strain BTBR (Black and Tan BRachyury) that carried the mutations at(nonagouti; black and tan), Itpr3tf (inositol 1,4,5-triphosphate receptor 3; tufted), and T (brachyury). The BTBR strain was developed by L.C. Dunn from stock obtained from Dobrovolskaia-Zavadskaia. He brother-sister mated the stock at Columbia University and inserted tufted (Itpr3tf) as a marker around 1956. The stock was continuously inbred in the laboratory of the late Dorothea Bennett from 1962 and then brought by Karen Atrzt in 1974 from the Bennett laboratory to the laboratory of Jean-Louis Guenet at the Institut Pasteur, who sent the strain in 1982 to the McArdle Laboratory at the University of Wisconsin. The T locus had been maintained in the strain as a segregating locus, but had been dropped sometime prior to the acquisition of the current strain by The Jackson Laboratory from Alexandra Shedlovsky and Bill Dove at the McArdle Laboratory in 1994.
|Allele Synonym(s)||deletion; Disc1del|
|Gene Symbol and Name||Disc1, disrupted in schizophrenia 1|
|Gene Synonym(s)||SCZD9; C1orf136|
|Strain of Origin||various|
|General Note||This deletion appears in multiple strains of the 129 superfamily, 101/RI, BTBR T+ tf/J, LP/J, FVB/NJ, SJL/J, SWR/J and DDY/JclSidSeyFrkJ (J:111837, J:195189).|
|Molecular Note||A 25 bp deletion of the locus causes a frame shift in the reading frame, resulting in 13 novel amino acids and a premature stop codon at exon 7.|
|Allele Name||wild type|
|Allele Type||Not Applicable|
|Allele Synonym(s)||T+; wild type|
|Gene Symbol and Name||T, brachyury, T-box transcription factor T|
|Gene Synonym(s)||coupe; Bra; brachyury-like 2; brachyury-like 3; T1; Low; low ratio; Lr; Tl2; Tl3; cou; SAVA; TFT; Tbxt|
|Strain of Origin||Not Specified|
|Allele Synonym(s)||tufted; Itpr3tf|
|Gene Symbol and Name||Itpr3, inositol 1,4,5-triphosphate receptor 3|
|Gene Synonym(s)||Ip3r3; inositol 1,4,5-triphosphate receptor, type III; Itpr-3; IP3R; IP3R3; IP3R3X; tf; Itpr-3; tf; tufted; Ip3r3; IP3R-3|
|Strain of Origin||BTBR|
|General Note||This allele was recovered from a Harwell testing stock carrying multiple recessive markers in an undefined background. (J:273)|
|Molecular Note||Complementation mapping was used to demonstrate that this spontaneous mutation was an allele of Itpr3. Sequencing revealed a 12 bp deletion in Exon23 (Chr17: 27238069, Build 38.1) which codes for amino acids 983-986. This mutation arose early in the history of the BTBR strain (in or soon after 1956) and is not found in 18 other strains (129P2/OlaHsd, 129S1/SvImJ, 129S5/SvEvBrd, A/J, AKR/J, BALB/cJ, C3H/HeJ, C57BL/6NJ, CAST/EiJ, CBA/J, DBA/2J, FVB/NJ, LP/J, NOD/ShiLtJ, NZO/HlLtJ, PWK/PhJ, SPRET/EiJ and WSB/EiJ)|
|Allele Type||Not Applicable (Not Specified)|
|Allele Synonym(s)||Cox7a2ll; long|
|Gene Symbol and Name||Cox7a2l, cytochrome c oxidase subunit 7A2 like|
|Gene Synonym(s)||COX7RP; SIG-81; SIG81; silica-induced gene 81; Silg81; COX7AR; EB1|
|Strain of Origin||multiple strains|
|General Note||Querying the sequences of the Sanger Mouse Genomes Project reveals that the short allele with its 6 bp deletion exists in C57BL/6J, C57BL/10J, C57BL/6NJ, C58/J, BALB/cJ, C3H/HeH, 129S5/SvEvBrd, NZW/LacZ, and SEA/GnJ, but the long allele lacking the deletion exists in 129S1/SvImJ, A/J, AKR/J, BTBR T+ Itpr3tf/J, BUB/BnJ, C3H/HeJ, C57BR/cdJ, C57L/J, CAST/EiJ, CBA/J, DBA/1J, DBA/2J, FVB/NJ, I/LnJ, KK/HiJ, LEWES/EiJ, LP/J, MOLF/EiJ, NOD/ShiLtJ, NZB/BlNJ, NZO/HlLtJ, PWK/PhJ, RF/J, SPRET/EiJ, ST/bJ, WSB/EiJ, ZALENDE/EiJ.|
|Molecular Note||This allele encodes the long isoform with 113 amino acids. It is found in 129S2/SvPasCrl, CBA/CaOlaHsd, Hsd:ICR, and NZB/OlaHsd.|
When using the BTBR mouse strain in a publication, please include JAX stock #002282 in your Materials and Methods section.
|Homozygous for a<t>, Homozygous for tf, 1 pair minimum|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
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