Mouse Genome Informatics
hm1
    Jag1Mhdahtu/Jag1Mhdahtu
C3HeB/FeJ-Jag1Mhdahtu
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Jag1Mhdahtu/Jag1Mhdahtu mice die because of defects in vascular remodeling

mortality/aging

growth/size
• almost all E11.5 embryos appear to be delayed in development by a day or half a day

embryogenesis
• absence or great reduction in the number of large blood vessels in the yolk sacs
• some embryos exhibit a kinky neural tube
• almost all E11.5 embryos appear to be delayed in development by a day or half a day

cardiovascular system
• less branching of vessels in the head region
• absence or great reduction in the number of large blood vessels in the yolk sacs
• some embryos exhibit an expanded pericardium
• hemorrhage

nervous system
• some embryos exhibit a kinky neural tube


Mouse Genome Informatics
ht2
    Jag1Mhdahtu/Jag1+
C3HeB/FeJ-Jag1Mhdahtu
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Inner ear of Jag1Mhdahtu/Jag1+ mice at E16.5 shows missing or smaller ampullae

behavior/neurological
• mild head shaking behavior
• age of onset is approximately weaning age

hearing/vestibular/ear
N
• mutants are not deaf and have normal endocochlear potentials, but have slightly, although not significant, raised thresholds for compound action potentials (J:72108)
• display atypical hair cells that exhibit the bundle morphology of outer hair cells but reside in the inner hair cell row, resulting in an overall increases in the number of inner hair cells by 17%
• 33% reduction in the numbers of outer hair cells; instead of the normal 3 rows of outer hair cells there are only 2 rows and in some regions, only one row
• the number of inner hair cells is increased slightly, with occasional cells appearing in a second row toward the inner sulcus
• truncation of semicircular canals
• posterior and sometimes anterior ampullae are missing; most mice have both ampullae missing
• when present, the anterior ampulla is small
• in the few cases where the posterior ampulla is present, it is very small
• anterior crista at P3 is small, flat and missing eminentia cruciata (J:72108)
• mice lack anterior cristae and sometime posterior cristae unlike in wild-type mice (J:149467)

nervous system
• display atypical hair cells that exhibit the bundle morphology of outer hair cells but reside in the inner hair cell row, resulting in an overall increases in the number of inner hair cells by 17%
• 33% reduction in the numbers of outer hair cells; instead of the normal 3 rows of outer hair cells there are only 2 rows and in some regions, only one row
• the number of inner hair cells is increased slightly, with occasional cells appearing in a second row toward the inner sulcus

Mouse Models of Human Disease
OMIM IDRef(s)
Alagille Syndrome 1; ALGS1 118450 J:72108


Mouse Genome Informatics
ht3
    Jag1Mhdahtu/Jag1Slalom
involves: BALB/c * C3H * C3HeB/FeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

embryogenesis
• absence of blood vessels in the yolk sac
• embryos are either necrotic or hemorrhagic

cardiovascular system
• absence of blood vessels in the yolk sac
• embryos are either necrotic or hemorrhagic


Mouse Genome Informatics
cx4
    Jag1Mhdahtu/Jag1+
Six1Cwe/Six1+

C3HeB/FeJ-C3HeB/FeJ-Jag1Htu Six1Cwe
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hearing/vestibular/ear
• anterior and posterior canals are truncated compared to in wild-type mice
• however, lateral canals are normal
• mice lack cristae unlike wild-type mice

behavior/neurological