Strain Name: |
STOCK gr +/+ Ap3d1mh/J |
|---|---|
Stock Number: |
000279 |
Availability: | Repository-Cryopreserved |
Price and Supply Information | |
General Terms and Conditions |
| Former Name |
STOCK gr +/+ Ap3dmh/J (Changed: 15-DEC-04
) |
| Genes & Alleles | Ap3d1; Ap3d1mh; Pde6b; Pde6brd1; gr; |
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Species laboratory mouse Generation F70 Appearance
agouti grey
Related Genotype: A/A gr +/gr ?
mocha coat color
Related Genotype: A/A Ap3d1mh +/Ap3d1mh ?
agouti
Related Genotype: A/A ? +/+ ? or A/A gr +/+ Ap3d1mhImportant Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.Strain Description
Mice homozygous for the mocha spontaneous mutation (Ap3d1mh) have increased perinatal mortality. They are recognizable at birth by the absence of visible pigment in the eyes, which darken to deep red in adults. The hairs have considerably smaller and fewer melanin granules than normal. Behavior is abnormal, characterized by hyperactivity, tilted heads, and in some the inability to swim. All homozygotes show degenerative changes in the organ of Corti, stria vascularis, and spiral ganglion, and most show abnormalities of the otoliths in the saccule and utricle. This degeneration can be lessened by the administration of supplemental manganese or, to a lesser degree, zinc to the dam during pregnancy. Evoked auditory brainstem responses appear normal in young homozygotes, but decrease with age coincident with the cochlear degeneration with no response detected after six months of age. At three months of age, mice homozygous for the Ap3d1mh allele have significantly increased auditory evoked potentials after the first of two paired tones. Ap3d1mh-2J homozygotes also show an increased response to thefirst tone but this has not been proven with statistical significance. Homozygotes also show prolonged bleeding times due to a platelet storage pool deficiency (SPD) associated with reduced granulation of the platelets. Consistent with this defective vesicle transport, homozygotes also have decreased levels of renal lysosomal enzymes in the urine. Mocha is thus a mouse mutation that, like pa (pallid) and mu (muted), offers a model for human Hermansky-Pudlak syndrome, combining pigment and otolith abnormalities with platelet SPD. Electrocorticograms from awake Ap3d1mh homozygotes show a constant, high voltage, bilaterally synchronous theta wave pattern that is diminished by chloral-hydrate anesthetization. Heterozygotes also have occasional brief bursts of lower voltage theta waves. Ap3d1mh-2J homozygotes do not display hypersynchronized electrocorticograms but have spike-wave and tonic clonic seizures. Ap3d1mh homozygotes may be fertile but are poor breeders. (Lane and Deol, 1974; Rolfson and Erway, 1984; Noebels and Sidman, 1989; Miller et al., 1999; Peden et al., 2002; Kantheti et al., 1998 and 2003.)This strain is also segregating for the grizzled (gr) spontaneous mutation. gr is a recessive mutation that occasionally causes tail kinks and consistently causes dilution of the yellow pigment but not the black pigment of the hair. The coat color has been described as similar to chinchilla (Tyrc-ch/Tyrc-ch) but with the black pigment remaining undiluted. On the agouti JIGR/Dn background the gr/gr coat color is grayish agouti. On a non-agouti background the hair in the ears and around the genitalia is white. The gr mutation causes 40-50% mortality prior to phenotypic classification and this affects males more than females. This mortality is both postnatal and prenatal from approximately 10 days onward. Pregnant dams expected to carry some homozygotes have been found to carry some dead embryos some of which had craneofacial abnormalities including shortened snout and swollen optic and occipital regions. At birth homozygotes weigh an average of one quarter less than their wildtype siblings. Although they increase in weight as suckling pups, as adults they still weigh 5-25% less than their wildtype siblings. (Falconer, 1950; Bloom and Falconer, 1966.)
This strain is homozygous for the rd1 allele of Pde6b resulting in early onset retinal degeneration in all pups. (Lane and Deol, 1974; Qiao et al., 2003.)
Strain Development
The Ap3d1mh mutation arose spontaneously on the B6.C3-pi/+ background (then at N8) at The Jackson Laboratory in 1963 and was subsequently crossed to a variety of linkage testing stocks (including one carrying Ra, Os, and Pt, one carrying Kcnj6wv, one carrying Re, McolnVa, and Sd, and one carrying Gli3Xt-J, Lystbg-J, and Edaraddcr) before then being crossed to JIGR/Dn (then at F13) which carries ji and gr maintained in repulsion. ji was bred out and the resulting balanced stock with Ap3d1mh in repulsion with gr was then inbred via sibling mating. It reached F5 in 1972, F14 in 1975, F26 in 1978, F35 in 1980, F41 in 1982, F49 in 1984, and in 1989 doubly heterozygous (gr +/+ Ap3d1mh) females and males at F69 or F70 were sibling mated to generate embryos for freezing.
Related Disease (OMIM) Terms |
Mammalian Phenotype Terms assigned by genotype |
| Allele Symbol | Ap3d1mh | ||
|---|---|---|---|
| Allele Name | mocha | ||
| Common Name(s) | mh; mocha; | ||
| Strain of Origin | C57BL/6-pi | ||
| Gene Symbol and Name | Ap3d1, adaptor-related protein complex 3, delta 1 subunit | ||
| Chromosome | 10 | ||
| Gene Common Name(s) | AA407035; ADTD; Ap3d; Bolvr; bovine leukemia virus receptor; expressed sequence AA407035; hBLVR; mBLVR1; mh; mocha; | ||
| Molecular Note | The mutation is a 12 kb deletion that removes at least two exons, resulting in a 496 bp deletion of coding material shortly after the initiating ATG codon and causing an out of frame translation followed by a premature termination site. [MGI Ref ID J:50662] | ||
| Allele Symbol | gr | ||
| Allele Name | grizzled | ||
| Strain of Origin | A x STOCK-Sgk3fz | ||
| Molecular Note | This allele maps to a region of homology with the human paralemmin gene, PALM. Direct sequencing of RNA from brains of homozygous mice and analysis of the paralemmin coding region showed no sequence abnormalities. [MGI Ref ID J:47933] | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Common Name(s) | rd; rd-1; rd1; rodless retina; | ||
| Allele | Control | |
|---|---|---|
| Ap3d1mh | ? +/+ ? untested from colony | |
| gr | ? +/+ ? untested from colony | |
| Considerations for Choosing Controls | ||
| Control Pricing Information for JAX® GEMM® Strains | ||
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
Strains carrying gr allele
000572 JIGR/DnJ View Strains carrying gr (1 strain)
Strains carrying other alleles of Pde6b
004297 B6.CXB1-Pde6brd10/J 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J View Strains carrying other alleles of Pde6b (8 strains)
Ap3d1mh related
Pde6brd1 relatedDermatology Research
Color and White Spotting Defects
Hematological Research
Platelet Defects (platelet storage pool deficiency)
Neurobiology Research
Epilepsy
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
gr relatedMouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
Dermatology Research
Color and White Spotting Defects
Developmental Biology Research
Craniofacial and Palate Defects
Growth Defects
Perinatal Lethality (Homozygous)
Postnatal Mortality
| Strain Name: | STOCK gr +/+ Ap3d1mh/J |
| Stock Number: | 000279 |
IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:
| Price(s) in US dollars ($) | |||||
|---|---|---|---|---|---|
| Cryorecovery Fee | $1900.00 | ||||
| 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. View Control Pricing Information for JAX® Strains. |
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