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Phenotypes Associated with This Genotype
Genotype
MGI:2388917
Allelic
Composition
Nppclbab/Nppclbab
Genetic
Background
either: (involves: C57BL/6J * PL/J) or PL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nppclbab mutation (1 available); any Nppc mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• one month old homozygous males have exceptionally small testes

growth/size/body
• overall smaller body size than their littermates; proportionate dwarfing of all organs with the possible exception of the male reproductive tract
• two mutants examined at 9 weeks of age exhibited a greater long bone: spine proportionality ratio than younger mice, suggesting that the long bones had ceased growing (progressive dwarfism)

limbs/digits/tail
• long bones are shorter than normal
• long bones are shorter than normal
• mutants have proportionately shortened tails

reproductive system
N
• mature mutant males breed, and testes appear by palpation to be of normal size; testis biopsy of a homozygous male revealed normal sperm heads and many sperm tails
• one month old homozygous males have exceptionally small testes

skeleton
• about 50% of those examined had growth plate abnormalities, while the rest exhibited normal growth plates
• Background Sensitivity: the growth plates are less affected on C57BL/6J than on the original PL/J background
• of those having abnormalities, some showed disorganization of both femoral and tibial growth plates while others of only the femoral growth plates;
• long bones are shorter than normal
• long bones are shorter than normal


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory