|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Disc1||disrupted in schizophrenia 1|
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Prkra||protein kinase, interferon inducible double stranded RNA dependent activator|
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Itpr3||inositol 1,4,5-triphosphate receptor 3|
Because it arose on the BTBR background this strain is homozygous for at and Disc1del and is wildtype at the brachyury locus.
On this BTBR background, mice homozygous for the little ear 5 Jackson mutation are distinctly smaller than their wildtype littermates, have ear pinnae that are less than half the normal size on average, have malformed skulls that are shorter than normal, and display ascending dystonia beginning at two weeks of age and progressing to death usually by three weeks of age, but no later than 6 weeks of age. The tail is finely kinked, but the bone structure appears normal and the tail tends to straighten out after death indicating the neurologic cause of the kinked tail. Many homozygotes display gnarled wrists and have impaired grasping reflex. An elongated step/push gait with the hind limbs was found in some homozygotes at three weeks of age. Some neurons in the dorsal root ganglia or trigeminal ganglion were found to be apoptotic or necrotic. The skull is shorter than normal, misshapen, and has incomplete ossification with many skulls having open foramen. Many of these phenotypes are dependent on genetic background.
The little ear 5 Jackson mutation arose spontaneously in the BTBR T+ Itpr3tf/J strain, which is homozygous for the tufted mutation. This mutant subline was maintained on this background homozygous for tufted, and Disc1del and segregating for little ear 5 Jackson. Sperm was cryopreserved from males homozygous for tufted and heterozygous for little ear 5 Jackson and standard recovery is scheduled to use oocytes from BTBR T+ Itpr3tf/J, which will generate pups homozygous for tufted and either wildtype or heterozygous for little ear 5 Jackson.
|Allele Synonym(s)||Disc1129S6; Disc1delta6|
|Gene Symbol and Name||Disc1, disrupted in schizophrenia 1|
|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 in exon 6 causes a frame shift in the reading frame, resulting in 13 novel amino acids and a premature stop codon in exon 7.|
|Allele Name||little ears 5 Jackson|
|Gene Symbol and Name||Prkra, protein kinase, interferon inducible double stranded RNA dependent activator|
|Strain of Origin||BTBR T+ Itpr3tf/J|
|Molecular Note||This spontaneous T insertion/duplication (an extra T in the poly(T) stretch) between chromosome 2 76,636,870-76 bp (GRCm38) causes a frameshift that introduces 7 novel amino acids followed by a premature stop codon.|
|Gene Symbol and Name||Itpr3, inositol 1,4,5-triphosphate receptor 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)|
When using the BTBR-Prkralear-5J Itpr3tf/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #027181 in your Materials and Methods section.
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