Absence of otoliths in the inner ear leads these mice to display abnormal behavior and head tilting. These mice also exhibit platelet storage pool deficiency, abnormal kidney physiology, and abnormal respiratory system physiology resulting in emphysema.
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Bloc1s6||biogenesis of lysosomal organelles complex-1, subunit 6, pallidin|
|Allele Type||Gene Symbol||Gene Name|
Mice homozygous for the pallid spontaneous mutation Bloc1s6pa and nonagouti (a) have pink eyes and a light, yellow-brown coat. The Bloc1s6pa/Bloc1s6pa mice have a slightly lighter coat than strains that are homozygous for the pink-eyed dilution allele (Oca2p/Oca2p). Viability of homozygous mutant mice is slightly reduced. Some homozygotes have slightly abnormal behavior, with abnormal postural responses and head tilting due to the absence of otoliths in the sacculus and utriculus in many but not all mutant mice. The effect of pallid on behavior and otolith morphology appears to be a result of manganese deficiency. Homozygotes display defective mucopolysaccharide synthesis in the otolith matrix and a slower rate of transport of manganese, L-dopa, and L-tryptophane in the brain. Homozygotes have elevated basal and testosterone-induced levels of the kidney lysosomal enzymes b-glucuronidase, b-galactosidase, and a-mannosidase, accompanied by lowered enzyme excretion in the urine. Pallid mice have a deficiency in serum a1-antitrypsin and have been proposed as a model of genetic a1-antitrypsin deficiency. Lung lesions similar to those seen in human emphysema are found in these mice, and are attributed, like human hereditary emphysema, to a decreased capacity to inhibit serum elastase although liver a1-antitrypsin activity is normal. Pallid mice have prolonged bleeding time due to a platelet storage pool deficiency (SPD) characterized by a normal platelet number but a deficiency in the number of platelet dense granules and in the serotonin, ATP, and ADP content of the granules. Two other mouse coat color mutants, muted (Bloc1s5mu) and mocha (Ap3d1mh), present a similar concatenation of pigment, otolith, and platelet SPD abnormalities, which also occur in human Hermansky-Pudlak syndrome. The pallid mutation is maintained in repulsion with the semidominant tight skin spontaneous mutation (Fbn1Tsk).
|Allele Synonym(s)||Pldnpa; pa|
|Gene Symbol and Name||Bloc1s6, biogenesis of lysosomal organelles complex-1, subunit 6, pallidin|
|Gene Synonym(s)||BLOC-1; BLOC-1 subunit; BLOS6; HPS9; PA; PALLID; PLDN; Pldn; Pldn; pa; pallid; pallidin|
|Strain of Origin||wild|
|Allele Name||tight skin|
|Gene Symbol and Name||Fbn1, fibrillin 1|
|Gene Synonym(s)||ACMICD; AI536462; ECTOL1; FBN; Fib-1; GPHYSD2; MASS; MFS1; OCTD; SGS; SSKS; Tsk; WMS; WMS2; expressed sequence AI536462; tight skin|
|Strain of Origin||B10.D2/(58N)Sn|
Fbn1Tsk is a heterozygous viable, homozygous lethal mutation. Bloc1s6pa is a recessive viable mutation. Although Fbn1Tsk +/+ Bloc1s6pa (double heterozygous) females may reproduce, they generally only produce one to two litters. Thus, it is best to use +Bloc1s6pa/+ Bloc1s6pa (homozygous pallid) females bred with Fbn1Tsk +/+ Bloc1s6pa (double heterozygous) males to propagate this strain.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided,
their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of
each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders
are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in
order to provide the minimum number of animals, animals will ship within 25 weeks.
The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. 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.
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