Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp-2H mutation
(2 available);
any
Pax3 mutation
(50 available)
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mortality/aging
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• most embryos die by E14.5 though 15 % live until birth
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cardiovascular system
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• 85% of E13.5 embryos display persistent truncus arteriosis (PTA)
• embryos with PTA display only one outflow tract vessel that rises predominately from the right ventricle
• the trunk appears slightly larger than the pulmonary artery of control embryos
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• a small septal defect is visible in the upper part of the ventricular septum with E13.5 embryos with persistent truncus arteriosis
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• in E13.5 embryos that have persistent truncus arteriosis
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• in E13.5 embryos that have persistent truncus arteriosis
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• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis
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• isolated monocytes from embryonic hearts with PTA have a three-fold reduction in calcium transients
• monocytes isolated from embryos without PTA have normal calcium transients
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muscle
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• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis
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nervous system
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• 76% of embryos fail to close their neural tubes in culture
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• three quarters of embryos develop exencephaly from improper neural tube closure
background:
three quarters of embryos develop exencephaly from improper neural tube closure
background:
three quarters of embryos develop exencephaly from
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embryo
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• neural folds in 76% of embryos fail to adopt a concave appearance and instead remain in a convex shape
• these embryos later in development fail to close their neural tubes
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• 76% of embryos fail to close their neural tubes in culture
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp-2H mutation
(2 available);
any
Pax3 mutation
(50 available)
|
|
|
mortality/aging
|
• most embryos die by E14.5 though 15 % live until birth
|
nervous system
|
• 80% of mutants develop neural tube defects
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• 76% of embryos fail to close their neural tubes in culture
(J:46341)
• 16 of 21 embryos exhibit a failure of the midbrain neural folds to adopt a concave morphology, remaining convex, resulting in an open neural tube
(J:60939)
|
|
• three quarters of embryos develop exencephaly from improper neural tube closure
(J:46341)
|
cardiovascular system
|
• 85% of E13.5 embryos display persistent truncus arteriosis (PTA)
• embryos with PTA display only one outflow tract vessel that rises predominately from the right ventricle
• the trunk appears slightly larger than the pulmonary artery of control embryos
|
|
• a small septal defect is visible in the upper part of the ventricular septum with E13.5 embryos with persistent truncus arteriosis
|
|
• in E13.5 embryos that have persistent truncus arteriosis
|
|
• in E13.5 embryos that have persistent truncus arteriosis
|
|
• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis
|
|
• isolated monocytes from embryonic hearts with PTA have a three-fold reduction in calcium transients
• monocytes isolated from embryos without PTA have normal calcium transients
|
muscle
|
• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis
|
embryo
|
• neural folds in 76% of embryos fail to adopt a concave appearance and instead remain in a convex shape
• these embryos later in development fail to close their neural tubes
|
|
• 80% of mutants develop neural tube defects
|
|
• 76% of embryos fail to close their neural tubes in culture
(J:46341)
• 16 of 21 embryos exhibit a failure of the midbrain neural folds to adopt a concave morphology, remaining convex, resulting in an open neural tube
(J:60939)
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp-2H mutation
(2 available);
any
Pax3 mutation
(50 available)
|
|
|
mortality/aging
embryo
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• rachischisis is observed along with other abnormalities
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nervous system
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• rachischisis is observed along with other abnormalities
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muscle
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• DiI injections into the 3 somites immediately adjacent to the forelimb bud between E9.25 and E9.5 reveal impaired cell migration with no cell moving more than 30 - 40 um from the site of injection
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• at E12.5 expression of myogenin is absent from the forelimb buds
(J:18227)
• limb buds from E11 embryos cultured for 4 days fail to generate any cells expressing early myogenic markers (desmin and sarcomeric myosin)
(J:32016)
• however, cells from somites grafted into chick limbs are able to undergo myogenic differentiation
(J:32016)
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• at E9.25, premature termination of the dermamyotome at the same level as the ventral lip of the axial myotome with absence of any epithelial structure in the ventral portion
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cellular
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• DiI injections into the 3 somites immediately adjacent to the forelimb bud between E9.25 and E9.5 reveal impaired cell migration with no cell moving more than 30 - 40 um from the site of injection
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp-2H mutation
(2 available);
any
Pax3 mutation
(50 available)
|
|
|
nervous system
|
• 86% of embryos fail to close their neural tubes in culture
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• frequency of spina bifida (82-88%) is similar on the NZW, DBA/2 or stock strain background
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• Background Sensitivity: mutants backcrossed for 4 generations onto a DBA/2 background exhibit a reduced frequency (35.7%) of cranial neural tube defects compared to mutants on a NZW background (74.3%) or a stock strain (75%)
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embryo
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• 86% of embryos fail to close their neural tubes in culture
|
|
• frequency of spina bifida (82-88%) is similar on the NZW, DBA/2 or stock strain background
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp-2H mutation
(2 available);
any
Pax3 mutation
(50 available)
|
|
|
nervous system
|
• 83%% of embryos fail to close their neural tubes in culture
|
|
• frequency of spina bifida (82-88%) is similar on the NZW, DBA/2 or stock strain background
|
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• mutants backcrossed for 4 generations onto a NZW background exhibit an increased frequency (74.3%) of cranial neural tube defects compared to mutants on a DBA/2 background (35.7%) but a similar frequency to mutants on a stock strain (75%)
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embryo
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• 83%% of embryos fail to close their neural tubes in culture
|
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• frequency of spina bifida (82-88%) is similar on the NZW, DBA/2 or stock strain background
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Allelic Composition |
Pax3Sp-2H/Pax3+
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Genetic Background |
involves: 101 * C3H/He * CBA/Ca |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp-2H mutation
(2 available);
any
Pax3 mutation
(50 available)
|
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pigmentation
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• mice had small or large belly spots
• mice with large belly spots were bred together and phenotyped
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integument
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• mice had small or large belly spots
• mice with large belly spots were bred together and phenotyped
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Allelic Composition |
Pax3Sp-2H/Pax3+
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Genetic Background |
involves: C57BL/6 |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp-2H mutation
(2 available);
any
Pax3 mutation
(50 available)
|
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pigmentation
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• coat is light colored
• penetrance is only about 50%
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• white spotting occurs on the belly and often extends to the feet and tail
• this trait has incomplete penetrance
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integument
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• coat is light colored
• penetrance is only about 50%
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• white spotting occurs on the belly and often extends to the feet and tail
• this trait has incomplete penetrance
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