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.Read More +
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)||pa; Pldnsuppa/sup; Pldnpa|
|Gene Symbol and Name||Bloc1s6, biogenesis of lysosomal organelles complex-1, subunit 6, pallidin|
|Strain of Origin||wild|
|Molecular Note||The C to T substitution at coding nucleotide 205 introduces a premature stop codon at arginine codon 69 (p.R69*) in pallid mice. Through Northern analysis, a single mRNA of about 2.5kb was found in reduced levels compared to wild-type.|
|Allele Name||tight skin|
|Gene Symbol and Name||Fbn1, fibrillin 1|
|Strain of Origin||B10.D2/(58N)Sn|
|General Note||Genbank ID for this allele: AF007248|
|Molecular Note||This allele harbors a 30 to 40kb genomic tandem duplication within the Fbn1 gene that results in a larger than normal in-frame transcript produced at normal levels.|
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.
When using the B6.Cg-Fbn1Tsk +/+ Bloc1s6pa/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000305 in your Materials and Methods section.