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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gnpattm1Just
targeted mutation 1, Wilhelm W Just
MGI:2670461
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gnpattm1Just/Gnpattm1Just involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:2670462
hm2
Gnpattm1Just/Gnpattm1Just involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 MGI:6423170


Genotype
MGI:2670462
hm1
Allelic
Composition
Gnpattm1Just/Gnpattm1Just
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnpattm1Just mutation (0 available); any Gnpat mutation (43 available)
phenotype observed in females
phenotype observed in males
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
• diameter decreased by 40%
• disorganization of the seminiferous epithelium
• increased number of apoptotic cells in the seminiferous tubules relative to wild-type

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

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
• the epididymides were devoid of sperm
• partial arrest occurring between pachytene primary spermatocytes and the stage of round spermatids
• 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
DO ID OMIM ID(s) Ref(s)
rhizomelic chondrodysplasia punctata type 2 DOID:0110852 OMIM:222765
J:84690




Genotype
MGI:6423170
hm2
Allelic
Composition
Gnpattm1Just/Gnpattm1Just
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnpattm1Just mutation (0 available); any Gnpat mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit reduced freezing responses in contextual fear conditioning
• mice show reduced freezing responses in cued fear conditioning
• mice show reduced immobility in the forced swim test
• however, mice show no alteration in the tail suspension test, with mice spending a similar immobile time as wild-type mice
• in the elevated plus maze, mice show increased counts of open arm entries without alternations in the time spent in the open arms indicating slightly reduced levels of anxiety
• in the light/dark box, mice show an increase in exploration distance in the light zone compared to wild-type mice, however, mice do not enter the light zone more often than wild-type mice, indicating slightly reduced levels of anxiety
• however, mice do not show differences in the novelty-suppressed feeding test, indicating no anxiety-related reduced behavior in response to a novel environment
• mice exhibit reduced freezing responses in the contextual and cued fear conditioning
• mice do not at all engage in digging behavior, leaving most marbles in their place, although they interact with the marble by sniffing or trying to bite them
• mice exhibit normal nesting behavior, utilizing the nestlets similarly to wild-type mice, however they show reduced nestlet shredding
• in the 3-chamber sociability test, mice show reduced sociability, with mice spending only slightly more time interacting with the stranger mouse than with the inanimate object
• however, mice show no apparent changes in the response to social novelty

taste/olfaction
N
• mice exhibit normal olfaction in the buried food test

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
disease of mental health DOID:150 J:286038





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory