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 si...
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Ap3d1||adaptor-related protein complex 3, delta 1 subunit|
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Pde6b||phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide|
|Allele Type||Gene Symbol||Gene Name|
This strain is homozygous for the retinal degeneration allele Pde6brd1.
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.)
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.
|Allele Synonym(s)||mh; mocha|
|Gene Symbol and Name||Ap3d1, adaptor-related protein complex 3, delta 1 subunit|
|Gene Synonym(s)||AA407035; ADTD; Ap3d; Bolvr; Bolvr; bovine leukemia virus receptor; expressed sequence AA407035; hBLVR; mBLVR1; mh; mocha|
|Strain of Origin||B6.C3-Grxcr1 |
|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.|
|Allele Name||retinal degeneration 1|
|Allele Synonym(s)||Pdebrd1; rd; rd-1; rd1; rodless retina|
|Gene Symbol and Name||Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide|
|Gene Synonym(s)||CSNB3; CSNBAD2; PDEB; Pdeb; Pdeb; RP40; nmf137; phosphodiesterase, cGMP, rod receptor, beta polypeptide; r; r; rd; rd; rd-1; rd1; rd1; rd10; rd10; retinal degeneration; retinal degeneration 1; retinal degeneration 10|
|Strain of Origin||various|
|General Note||The following inbred strains are known to be homozygous for Pde6b |
|Molecular Note||Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C to A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain has also been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested.|
|Gene Symbol and Name||gr, grizzled|
|Strain of Origin||A x STOCK-Sgk3 |
|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.|
|Please inquire about possible genotypes.|
At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical).
The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to
ship between 10 and 14 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery
will be done, extending the overall recovery time to approximately 25 weeks. 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 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 Customer Service for more information
on the cost of progeny testing for a strain.
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. The Jackson Laboratory 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.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.
MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.
In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of, PRODUCTS or SERVICES, JACKSON will, at its option, provide credit or replacement for the PRODUCT received or the SERVICES provided; JACKSON makes no other representations and this shall be the exclusive remedy of the purchaser. Please note specific policy for live mice.
Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.
In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.
MICE, PRODUCTS or SERVICES are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.
The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and SERVICES by JACKSON, and by its licensees and distributors.
Acceptance of delivery of MICE, PRODUCTS or SERVICES shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or SERVICES by JACKSON.