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Phenotypes Associated with This Genotype
Genotype
MGI:4443124
Allelic
Composition
Kif3atm2Gsn/Kif3atm2Gsn
H2afvTg(Wnt1-cre)11Rth/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2afvTg(Wnt1-cre)11Rth mutation (2 available); any H2afv mutation (20 available)
Kif3atm2Gsn mutation (1 available); any Kif3a mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• increased neural crest cell proliferation in the facial prominences, as shown by BrdU immunostaining
• cranial neural crest cells do not extend primary cilia
• primary cilia are truncated in frontonasal prominence

nervous system
• cranial neural crest cells do not extend primary cilia
• primary cilia are truncated in frontonasal prominence
• failure of neural fibers to span the midline

craniofacial
• craniofacial skeleton elements are displaced laterally but their maturation is unaffected
• severely dysmorphic
• anterior cranium occultum
• trabecular basal plate is reduced to bony nodules or absent at E17.5
• is reduced to bony nodules or absent at E17.5
• laterally displaced and underdeveloped resulting in an abnormal opening in the skull
• ramus is absent
• 30% shorter than wild-type
• laterally displaced at E17.5
• laterally displaced at E17.5
• laterally displaced at E17.5
• the palatine bones are dysmorphic and do not extend towards the midline
• some small ectopic ossifications are found in the midline which may or may not be fragments of the palatine bones
• presence of an abnormal skin-covered gap in the front of the head
• at E11.5 and E12.5 infra-nasal measurements show an increase in frontonasal width
• at E14.5, almost 100% wider than wild-type and at E17.5 120% wider than wild-type
• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present

digestive/alimentary system

skeleton
• craniofacial skeleton elements are displaced laterally but their maturation is unaffected
• severely dysmorphic
• anterior cranium occultum
• trabecular basal plate is reduced to bony nodules or absent at E17.5
• is reduced to bony nodules or absent at E17.5
• laterally displaced and underdeveloped resulting in an abnormal opening in the skull
• ramus is absent
• 30% shorter than wild-type
• laterally displaced at E17.5
• laterally displaced at E17.5
• laterally displaced at E17.5
• the palatine bones are dysmorphic and do not extend towards the midline
• some small ectopic ossifications are found in the midline which may or may not be fragments of the palatine bones
• presence of an abnormal skin-covered gap in the front of the head

respiratory system
• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present

vision/eye

cellular
• increased neural crest cell proliferation in the facial prominences, as shown by BrdU immunostaining

growth/size/body
• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dysostosis DOID:1934 J:158523


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory