Strain Name: |
STOCK a/a MitfMi-wh +/+ Itpr1opt/J |
|---|---|
Stock Number: |
000302 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Genes & Alleles | Itpr1; Itpr1opt; Mitf; MitfMi-wh; a; |
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Species laboratory mouse Generation N1 Strain Description
Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (MitfMi-wh/+) have a diluted coat color, light ears, a white belly spot, and in rare cases a dorsal spot. In addition, they display abnormalities of both the cochlear and vestibular portions of the inner ear. Mice homozygous for the opisthotonus spontaneous mutation (Itpr1opt) display a characteristic upward arching of head and tail. Homozygous mutant mice can be recognized at about 10 days of age by their loss of balance when standing or moving. Typical behavior of 15 to 20 day old homozygotes consists of falling over and struggling to get up. Agitation and severe opisthotonus ensue with death occuring by weaning age or before.
Related Disease (OMIM) Terms |
Mammalian Phenotype Terms assigned by genotype |
| Allele Symbol | Itpr1opt | ||
|---|---|---|---|
| Allele Name | opisthotonus | ||
| Common Name(s) | Itpr-1opt; | ||
| Strain of Origin | C57BLKS-Leprdb-2J | ||
| Gene Symbol and Name | Itpr1, inositol 1,4,5-triphosphate receptor 1 | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | D6Pas2; DNA segment, Chr 6, Pasteur Institute 2; I145TR; INSP3R1; IP3R; IP3R1; InsP3R type I; Ip3r; Itpr-1; P400; Pcp-1; Pcp1; Purkinje cell protein 1; SCA15; SCA16; inositol 1,4,5-triphosphate binding protein; opisthotonus; opt; | ||
| Molecular Note | The molecular defect underlying the phenotype in the opisthotonus mouse involves a genomic deletion that alters the Itpr1 protein. The genomic deletion removes the first two exons from the mRNA, but does not disrupt the translational reading frame. The protein is reduced in expression and is predicted to have lost several modulatory sites. [MGI Ref ID J:37547] | ||
| Allele Symbol | MitfMi-wh | ||
| Allele Name | white | ||
| Common Name(s) | Miwh; | ||
| Strain of Origin | (C57BL x DBA)F1 | ||
| Gene Symbol and Name | Mitf, microphthalmia-associated transcription factor | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | MI; WS2A; bHLHe32; black eyed white; bw; mi; microphthalmia; vit; vitiligo; wh; | ||
| General Note | Combination heterozygotes of MitfMi-wh/MitfMi, MitfMi-wh/MitfMi-b, and MitfMi-wh/MitfMi-ws show some interallelic complementation in that the heterozygote of the two alleles is more nearlynormal than either homozygote (J:12967, J:19656). MitfMi-b/MitfMi-wh agouti mice are light cream with white spots and ruby eyes (J:15061). | ||
| Molecular Note | T to A transversion at bp 764, which leads to an isoleucine to asparagine substitution at the corresponding amino acid (212) in the encoded protein. This mutation is in the basic region of the protein. [MGI Ref ID J:19656] [MGI Ref ID J:21366] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele | Control | |
|---|---|---|
| Itpr1opt | Untyped from the colony | |
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Itpr1opt
Strains carrying Itpr1opt allele
000019 B6C3Fe-a/a-Itpr1opt/J View Strains carrying Itpr1opt (1 strain)
Strains carrying MitfMi-wh allele
000593 B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J 000158 B6.Cg-MitfMi-wh/MitfMi/J 000184 B6.Cg-MitfMi-wh/Mitfmi-rw/J 000157 B6.Cg-MitfMi-wh/Mitfmi-sp/J 000057 B6.Cg-MitfMi-wh/J 000350 B6By.Cg-KitW-v MitfMi-wh T/J 001253 STOCK MitfMi-wh +/+ Wnt7apx/J View Strains carrying MitfMi-wh (7 strains)
Strains carrying a allele
View Strains carrying a (102 strains)
Strains carrying other alleles of Mitf
003046 B6(FVB)-MitfMi-Mee/J 000158 B6.Cg-MitfMi-wh/MitfMi/J 000184 B6.Cg-MitfMi-wh/Mitfmi-rw/J 000157 B6.Cg-MitfMi-wh/Mitfmi-sp/J 001573 B6C3Fe a/a-MitfMi/J 000956 B6CB-Mitfmi-rw/J 002611 C57BL/6J-Mitfmi-bws/J 002134 C57BL/6J-Mitfmi-vit/J View Strains carrying other alleles of Mitf (8 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (67 strains)
Itpr1opt related
MitfMi-wh relatedNeurobiology Research
Epilepsy
Metabolic Defects
Receptor Defects
Dermatology Research
Color and White Spotting Defects
Endocrine Deficiency Research
Bone/Bone Marrow Defects
Immunology and Inflammation Research
Immunodeficiency Associated with Other Defects
Mouse/Human Gene Homologs
Waardenburg syndrome, type IIA
Neurobiology Research
Vestibular and Hearing Defects
Sensorineural Research
Eye Defects
Vestibular and Hearing Defects
| Strain Name: | STOCK a/a MitfMi-wh +/+ Itpr1opt/J |
| Stock Number: | 000302 |
IMPORTANT NOTE: Prices are based on shipping destination. To view prices, select your shipping destination.
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
Cryorecovery of Strains Needing Progeny Testing. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845. Cryorecovery to establish a Dedicated Supply for greater quantities of mice |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
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