Mouse Genome Informatics
hm
    Gnpattm1Just/Gnpattm1Just
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 40% died within the first 4 to 6 weeks of life
• some mice survived through 18 months of age, in most cases the long-lived mice were females

pigmentation

endocrine/exocrine glands
• ovaries were reduced in size, however both folliculogenesis and ovulation occurred normally (J:84690)
• diameter decreased by 40% (J:84690)
• disorganization of the seminiferous epithelium (J:84690)
• increased number of apoptotic cells in the seminiferous tubules relative to wild-type (J:84690)

growth/size
• mice were 30% to 40% underweight relative to controls during the first 2 weeks of life

homeostasis/metabolism
• absence of plasmalogens
• reduced brain levels of docosahexaenoic acid (DHA)

limbs/digits/tail
• not as conspicuous as in humans with RCDP

reproductive system
• ovaries were reduced in size, however both folliculogenesis and ovulation occurred normally (J:84690)
• diameter decreased by 40% (J:84690)
• disorganization of the seminiferous epithelium (J:84690)
• increased number of apoptotic cells in the seminiferous tubules relative to wild-type (J:84690)
• the epididymides were devoid of sperm (J:84690)
• partial arrest occurring between pachytene primary spermatocytes and the stage of round spermatids (J:84690)
(J:84690)

vision/eye
• dysgenesis of the anterior eye chamber
• anterior lenticonus
• 20% reduction in eye diameter

nervous system
• at P20, granule cell precursors (GCP) are present in the external granule layer, which were absent in age-matched controls, indicating a delay in GCP migration
• at P10 to P45, the intraculminate, declival and uvular fissures are poorly developed or missing in the mutant cerebellum and lobe IV/V is elongated and folia VI/VII appear to be particularly affected; at P20, reduced depth of the intracrural fissure is also seen
• reduced size of cerebral hemispheres
• Purkinje cells of adult mutant mice revealed a hyperspiny phenotype distinguished by additional perisomatic dendrites and multiple perisomatic and proximal dendritic spines not observed in age-matched controls
• reduced size of cerebellum hemispheres
• the length of the paranodes was significantly extended in the mutants
• dispersion of the Caspr signal was most pronounced in the optic nerve, but also significant in the corpus callosum and the cerebellum
• Purkinje cell axons, particularly those having large diameters, to be clearly altered missing the typical transverse bands either along the entire paranode or at individual loops
• by P20 myelination in the mutant vermis is considerably delayed especially in folia IV/V and VI, but the hypomyelination became less pronounced with advancing age
• by P45, the reduced myelination mutant mice is predominantly apparent in folium VI
• at P20, the initial non-myelinated portion of the axon was significantly extended in the optic nerve
• a 40% decrease in nerve conduction velocity of callosal myelinated fibers is seen, but hippocampal Schaffer collaterals, which in rat and mouse are largely unmyelinated, do not alterations in nerve conduction

cellular
• at P20, granule cell precursors (GCP) are present in the external granule layer, which were absent in age-matched controls, indicating a delay in GCP migration

Mouse Models of Human Disease
OMIM IDRef(s)
Rhizomelic Chondrodysplasia Punctata, Type 2; RCDP2 222765 J:84690