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Phenotypes Associated with This Genotype
Genotype
MGI:5432254
Allelic
Composition
Pgap1m1Nisw/Pgap1m1Nisw
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pgap1m1Nisw mutation (1 available); any Pgap1 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• all elements rostral to the interparietal element and tectum synoticum are largely absent
• the tectum synoticum is present as two lateral elements that do not transverse the midline
• interparietal element is dysmorphic and not ossified
• the supraoccipital and exoccipital elements are not ossified but are present
• the basioccipital element is absent

nervous system
• marker analysis indicates forebrain pattern defect, including a lack of Fgf8 expression in the anterior neural ridge indicating that the anterior neural ridge fail to develop
• early forebrain organizing centers are disrupted
• in E11.5 embryos (J:187360)
• embryos present with anterior truncations of the head

growth/size/body
• mutants are smaller
• shortening of the femur by 10.4% and of the humerus by 5.7%

skeleton
• all elements rostral to the interparietal element and tectum synoticum are largely absent
• the tectum synoticum is present as two lateral elements that do not transverse the midline
• interparietal element is dysmorphic and not ossified
• the supraoccipital and exoccipital elements are not ossified but are present
• the basioccipital element is absent

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
holoprosencephaly DOID:4621 OMIM:PS236100
J:187360


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
11/12/2024
MGI 6.24
The Jackson Laboratory