This strain, which is homozygous for both of Crb1em2Boc and Jak3m1J, has a more severe phenotype than Crb1rd8 homozygotes lacking the Jak3m1J mutation, with early-onset multifocal depigmented retinal lesions and photoreceptor loss. The phenotype of the combined genotype provides a model similar to that of retinal vascularization 3 (rnv3) found in B6.Cg-Crb1rd8 Jak3m1J/Boc.Read More +
|Allele Type||Gene Symbol||Gene Name|
|Endonuclease-mediated (Null/Knockout)||Crb1||crumbs family member 1, photoreceptor morphogenesis associated|
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous (Not Specified)||Jak3||Janus kinase 3|
The retinal degeneration 8 mutation in Crb1 is a point deletion at nucleotide 3481 that causes a frameshift and premature truncation of the transmembrane and cytoplasmic domains after amino acid 1207. Homozygosity for Crb1rd8 in mice that are also homozygous for the Jak3m1J mutation results in abnormal retinal vascularization, early-onset multifocal depigmented retinal lesions and photoreceptor loss. The Crb1em2Boc mutation, which was generated in a strain homozygous for both Crb1rd8 and Jak3m1J, is a 17 base pair intragenic deletion in exon 9 from nucleotide 3481-3497 that causes a frameshift with 7 amino acid substitutions before early termination. This double homozygous strain has the same essential phenotype as that of the parental strain, B6.Cg-Crb1rd8 Jak3m1J/Boc, which is referred to as retinal vascularization 3 and includes the retinal vascularization, early-onset multifocal depigmented retinal lesions and photoreceptor loss, as well as small thymus and small spleen from the Jak3m1J mutation.
Fertilized oocytes from the double homozygous strain B6.Cg-Crb1rd8 Jak3m1J/Boc were used for TALEN targeting into exon 9 where the deleted nucleotide (C/G) of Crb1rd8 nucleotide 3481 was replaced with a 17 bp deletion from nucleotide 3481-3497. This mutation was backcrossed twice from the founder to B6.Cg-Crb1+ Jak3m1J/Boc then sibling intercrossed to be homozygous for both mutations and maintained by sibling intercrossing.
|Allele Name||endonuclease-mediated mutation 2, Bo Chang|
|Allele Type||Endonuclease-mediated (Null/Knockout)|
|Allele Synonym(s)||Crb1em2Boc; endonuclease-mediated mutation 2, Bo Chang|
|Gene Symbol and Name||Crb1, crumbs family member 1, photoreceptor morphogenesis associated|
|Gene Synonym(s)||7530426H14Rik; A930008G09Rik; RIKEN cDNA 7530426H14 gene; RIKEN cDNA A930008G09 gene; LCA8; 7530426H14Rik; RP12; A930008G09Rik|
|Strain of Origin||B6.Cg-Crb1rd8 Jak3m1J/Boc|
|Molecular Note||This TALEN-mediated mutation, generated in mice homozygous for the rd8 allele, is a 17 base pair intragenic deletion in exon 9 spanning nucleotides 3481-3497, which causes a frameshift with 7 amino acid substitutions before early termination.|
|Allele Name||mutation 1, Jackson|
|Allele Type||Spontaneous (Not Specified)|
|Allele Synonym(s)||Jak3m1J; mutation 1, Jackson|
|Gene Symbol and Name||Jak3, Janus kinase 3|
|Gene Synonym(s)||LJAK; JAK3_HUMAN; wil; JAK-3; JAKL; L-JAK; willow; RATJAK3|
|Strain of Origin||B6;129-Crhr1tm1Klee/J|
|Molecular Note||This spontaneous G to A transition in exon 24 results in a missense mutation, changing codon 1081 from CGG, arginine, to CAG, glutamine. This occurred in a gene sequence already containing the A to C transversion in codon 1032 common in at least 27 inbred strains, which causes an amino acid change from serine to arginine.|
Because Jak3m1J homozygotes are immunocompromised, due consideration should be given to their environment and treatment.
When using the B6.Cg-Crb1em2Boc Jak3m1J/Boc mouse strain in a publication, please cite the originating article(s) and include JAX stock #031592 in your Materials and Methods section.
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