Mouse Genome Informatics
cn1
    Jag1tm1Grid/Jag1tm2Grid
Foxg1tm1(cre)Skm/Foxg1+

involves: 129P2/OlaHsd * 129S1/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mutants survive through E18.5

hearing/vestibular/ear
N
• at E15.5, inner ear structures not associated with sensory formation such as endolymphatic duct and sac, and crus are not affected (J:115783)
• formation of prosensory domain is disrupted by E18.5
• severe hair cell patterning defects are observed at E18.5
• no clear formation of rows or distinction between inner and outer hair cells is observed in midbasal regions of the organ of Corti; hair cells form in patches
• at E16.5, patterns look similar to those at E18.5 with patches of hair cells in midbasal regions and absent hair cells in very basal regions
• in middle portion of cochlea, patterning of inner and sparse outer hair cells is abnormal
• in apical turn of cochlea, there are only two rows instead of four rows of hair cells
• no hair cell formation is observed in basal turns of cochlea; at E18.5, hair cells and supporting cells are absent in very basal region of cochlea
• no outer hair cells or supporting Deiter's cells are present in apex of cochlea
• at E18.5, tunnel of Corti is not apparent
• semicircular canals are mostly absent, with only a small portion of lateral semicircular canal present at E15.5
• cristae and ampullae are missing or severely disrupted by E14.5 in homozygotes
• at E15.5, only a small portion of the anterior canal is present in homozygotes
• at E15.5, semicircular canals are largely absent
• structure is extremely small, with few differentiating hair cells; severe disruption of differentiation of utricular macula is observed
• observed at E13.5
• at E13.5, saccule appears misshapen
• at E18.5, saccule and macula are relatively normal, but entire saccular structure is shaped differently compared to controls

nervous system
• severe hair cell patterning defects are observed at E18.5
• no clear formation of rows or distinction between inner and outer hair cells is observed in midbasal regions of the organ of Corti; hair cells form in patches
• at E16.5, patterns look similar to those at E18.5 with patches of hair cells in midbasal regions and absent hair cells in very basal regions
• in middle portion of cochlea, patterning of inner and sparse outer hair cells is abnormal
• in apical turn of cochlea, there are only two rows instead of four rows of hair cells
• no hair cell formation is observed in basal turns of cochlea; at E18.5, hair cells and supporting cells are absent in very basal region of cochlea
• no outer hair cells or supporting Deiter's cells are present in apex of cochlea


Mouse Genome Informatics
cn2
    Jag1tm2Grid/Jag1tm2Grid
Tg(Wnt1-cre)11Rth/0

involves: 129S1/Sv * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• maxilla deficiencies lead to poor feeding and death around one month of age

growth/size
• the palatal dimensions are proportionally smaller, however the structural components are in tact
• mutants exhibit reduced proliferation in the palate shelves at E14.5 and in the adjacent palatal epithelium
• mutants exhibit reduced hyaluronic acid in the palate shelves at E14.5
• mutants exhibit aberrant vascular pattering in the palate including reduced vascular branching at E14.5 and E15.5
• at E14.5, palatal shelf elevation above the tongue occurs normally but palatal elongation is reduced anteriorly, whereas the posterior palate shelf length is unaffected
• mutants exhibit delayed palatal shelf elongation
• some E15.5 mutants show delayed palate shelf apposition and the persistence of the epithelial seam, however palate fusion occurs in all mutants
• palate shelf height is reduced in both the anterior and posterior regions
• midfacial hypoplasia resulting in a reduction in anterior facial width

craniofacial
• shortened maxillary regions; anterior-posterior facial length is normal at P0 but over time the mutants exhibit smaller maxillary lengths
• the inframaxillary length and the posterior-anterior length are reduced
• dental occlusion is misaligned with severe midface hypoplasia requiring trimming of the lower incisors weekly
• mutants exhibit reduced hyaluronic acid in the palate shelves at E14.5
• the palatal dimensions are proportionally smaller, however the structural components are in tact
• mutants exhibit reduced proliferation in the palate shelves at E14.5 and in the adjacent palatal epithelium
• mutants exhibit aberrant vascular pattering in the palate including reduced vascular branching at E14.5 and E15.5
• at E14.5, palatal shelf elevation above the tongue occurs normally but palatal elongation is reduced anteriorly, whereas the posterior palate shelf length is unaffected
• mutants exhibit delayed palatal shelf elongation
• some E15.5 mutants show delayed palate shelf apposition and the persistence of the epithelial seam, however palate fusion occurs in all mutants
• palate shelf height is reduced in both the anterior and posterior regions
• midfacial hypoplasia resulting in a reduction in anterior facial width

skeleton
• shortened maxillary regions; anterior-posterior facial length is normal at P0 but over time the mutants exhibit smaller maxillary lengths
• the inframaxillary length and the posterior-anterior length are reduced
• dental occlusion is misaligned with severe midface hypoplasia requiring trimming of the lower incisors weekly

behavior/neurological
• mutants exhibit poor feeding after 30 days of age due to malocclusion and require soft mouse chow

cardiovascular system
• mutants exhibit aberrant vascular pattering in the palate; reduced vascular branching in the palate at E14.5 and E15.5, reduced vasculature organization and vessel size, poor vascular smooth muscle investment, and irregular vessel formation

digestive/alimentary system
• the palatal dimensions are proportionally smaller, however the structural components are in tact
• mutants exhibit reduced proliferation in the palate shelves at E14.5 and in the adjacent palatal epithelium
• mutants exhibit reduced hyaluronic acid in the palate shelves at E14.5
• mutants exhibit aberrant vascular pattering in the palate including reduced vascular branching at E14.5 and E15.5
• at E14.5, palatal shelf elevation above the tongue occurs normally but palatal elongation is reduced anteriorly, whereas the posterior palate shelf length is unaffected
• mutants exhibit delayed palatal shelf elongation
• some E15.5 mutants show delayed palate shelf apposition and the persistence of the epithelial seam, however palate fusion occurs in all mutants
• palate shelf height is reduced in both the anterior and posterior regions

Mouse Models of Human Disease
OMIM IDRef(s)
Alagille Syndrome 1; ALGS1 118450 J:181120


Mouse Genome Informatics
cn3
    Jag1tm1Grid/Jag1tm2Grid
Tg(Tagln-cre)1Her/0

involves: 129S1/Sv * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 50% of mutants die by P1
• no mutants survive past P2

cardiovascular system
• 95% of mutants exhibit patent ductus arteriosus
• defects in vascular smooth muscle cell differentiation in the outer layers of the medial wall of the ductus arteriosus and descending aorta at E17.5 when the ductus arteriosus is still patent, however the ascending limb of the aorta and the pulmonary artery trunk have normal vascular smooth muscle cell differentiation

homeostasis/metabolism

muscle
• defects in vascular smooth muscle cell differentiation in the outer layers of the medial wall of the ductus arteriosus and descending aorta at E17.5 when the ductus arteriosus is still patent, however the ascending limb of the aorta and the pulmonary artery trunk have normal vascular smooth muscle cell differentiation

cellular
• 95% of mutants exhibit patent ductus arteriosus

Mouse Models of Human Disease
OMIM IDRef(s)
Patent Ductus Arteriosus 607411 J:166769


Mouse Genome Informatics
cn4
    Jag1tm2Grid/Jag1tm2Grid
Tg(Tek-cre)12Flv/0

involves: C3H * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

cardiovascular system
• fail to remodel the primary vascular plexus of the yolk sac to form large blood vessels
• non-cell autonomous defects in vascular smooth muscle cell differentiation

embryogenesis
• fail to remodel the primary vascular plexus of the yolk sac to form large blood vessels

homeostasis/metabolism

muscle
• non-cell autonomous defects in vascular smooth muscle cell differentiation