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Phenotypes Associated with This Genotype
Genotype
MGI:3044922
Allelic
Composition
Ccnd1tm1Dsn/Ccnd1tm1Dsn
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccnd1tm1Dsn mutation (0 available); any Ccnd1 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• a significant fraction of mutants died early in life, often within the first 3 weeks
• a significant fraction of mutants displayed embryonic lethality

behavior/neurological
• all homozygotes showed a "leg-clasping" reflex: when lifted by their tails, they drew their limbs toward the trunk
• both male and female mutants were fertile; however, litters were invariably killed by their mothers and never survived beyond the second day
• such litters could only be rescued when cross-fostered

cellular
N
• MEF cultures obtained from E14 mutant embryos showed normal growth rates and cell-cycle kinetics

craniofacial
• about 50% of homozygotes displayed incisor misalignment, leading to their excssive growth
• in a few severe cases, incisors need to be cut to allow mice to feed properly
• about 50% of homozygotes displayed incisor misalignment
• misalignment of incisors was caused by lateral distortion of the mandibles in the anterior part of the jaw
• incisor misalignment did not affect feeding or overall size, as mice without such defects were equally runted
• in one case, there was a marked distortion of the maxilla on one side

endocrine/exocrine glands
• at mid-pregnant and postpartum stages, mammary glands failed to undergo normal lobuloalveolar development
• at these stages, mammary glands showed poor acinar development and little secretory activity
• at mid-pregnant and postpartum stages, mammary glands failed to undergo normal lobuloalveolar development
• at these stages, mammary glands showed poor acinar development and little secretory activity
• females were unable to nurse newborn pups due to the failure of mammary tissue development

growth/size/body
• about 50% of homozygotes displayed incisor misalignment, leading to their excssive growth
• in a few severe cases, incisors need to be cut to allow mice to feed properly
• about 50% of homozygotes displayed incisor misalignment
• all homozygotes were 10%-40% smaller than wild-type during growth to adulthood
• the weights and sizes of major organs were proportionately lower, consistent with reduced size

reproductive system
• at mid-pregnant and postpartum stages, mammary glands failed to undergo normal lobuloalveolar development
• at these stages, mammary glands showed poor acinar development and little secretory activity

skeleton
• about 50% of homozygotes displayed incisor misalignment, leading to their excssive growth
• in a few severe cases, incisors need to be cut to allow mice to feed properly
• about 50% of homozygotes displayed incisor misalignment
• misalignment of incisors was caused by lateral distortion of the mandibles in the anterior part of the jaw
• incisor misalignment did not affect feeding or overall size, as mice without such defects were equally runted
• in one case, there was a marked distortion of the maxilla on one side

vision/eye
• mutant eyes showed a reduction in the organization of the surface ganglion cell layer; the remainder of the eye structure appeared normal
• mutant eyes showed a reduction in the thickness of the surface ganglion cell layer
• homozygotes showed a striking reduction in thickness and organization of all retinal layers, esp. the outer layer, as well as disorganization of nuclear polarity
• homozygotes had hypoplastic, grossly underdeveloped retinas
• abnormal retinal features were consistent with a severe bilateral retinopathy

integument
• at mid-pregnant and postpartum stages, mammary glands failed to undergo normal lobuloalveolar development
• at these stages, mammary glands showed poor acinar development and little secretory activity
• at mid-pregnant and postpartum stages, mammary glands failed to undergo normal lobuloalveolar development
• at these stages, mammary glands showed poor acinar development and little secretory activity
• females were unable to nurse newborn pups due to the failure of mammary tissue development


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
03/12/2024
MGI 6.23
The Jackson Laboratory