Phenotypes associated with this allele

• Allele Symbol: Pax3^Sp-1H
• Allele Name: splotch 1 Harwell
• Allele ID: MGI:1856292
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax3^Sp-1H/Pax3^Sp-1H	involves: 101/H * C3H * C3H/HeH	MGI:2168440
hm2	Pax3^Sp-1H/Pax3^Sp-1H	involves: 101/H * C3H/HeH * C57BL/6	MGI:3036728
cx3	Lbx1^tm1Thbr/Lbx1^tm1Thbr Pax3^Sp-1H/Pax3^Sp-1H	involves: 101/H * 129S4/SvJae * C3H/HeH * C57BL/6	MGI:3844349
cx4	a/a Pax3^Sp-1H/Pax3^Sp-1H	involves: 101/H * C3H/HeH * C57BL/6	MGI:5636497

Genotype
MGI:2168440

hm1

• Allelic Composition: Pax3^Sp-1H/Pax3^Sp-1H
• Genetic Background: involves: 101/H * C3H * C3H/HeH

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

embryo

incomplete rostral neuropore closure ( J:19818 )

• in half of embryos on day E13.5, parts of the rostral neural tube do not close properly

• on day E13.5 of gestation, anterior neuropore remains open and brain ventricles openly communicate with the amniotic sac

nervous system

incomplete rostral neuropore closure ( J:19818 )

• in half of embryos on day E13.5, parts of the rostral neural tube do not close properly

• on day E13.5 of gestation, anterior neuropore remains open and brain ventricles openly communicate with the amniotic sac

abnormal lateral ventricle morphology ( J:19818 )

• incomplete closure of anterior neuropore leads to collapse of the lateral ventricles at days 13.5-14.5 of gestation

exencephaly ( J:19818 )

• exencephaly involving hindbrain, midbrain, and most of forebrain is observed when rostral neural tube does not close

Genotype
MGI:3036728

hm2

• Allelic Composition: Pax3^Sp-1H/Pax3^Sp-1H
• Genetic Background: involves: 101/H * C3H/HeH * C57BL/6

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:88412 )

• embryos die between E13.5 and E14

cardiovascular system

persistent right dorsal aorta ( J:88412 )

abnormal pharyngeal arch artery morphology ( J:88412 )

• various abnormalities involving the abnormal regression or persistence of branchial arch arteries are found in 4 out of 5 embryos

• in 2 out of 5 embryos regression of right arch artery 4 results in the abnormal origin of the right subclavian artery

abnormal sixth pharyngeal arch artery morphology ( J:88412 )

• in 3 out of 5 embryos the left arch artery 6 regresses resulting in loss of the ductus arteriosus Botalli

retroesophageal right subclavian artery ( J:88412 )

• in 2 out of 5 embryos regression of right arch artery 4 results in the abnormal origin of the right subclavian artery

• this abnormal origin of the right subclavian artery also involves abnormal persistence of a segment of the right dorsal aortic root

abnormal common carotid artery morphology ( J:88412 )

• the common carotid artery is abnormal in 3 out of 5 mutants with either unusual origins or persistent communicating arteries between the right common carotid artery and the subclavian arteries

common truncal valve ( J:88412 )

• at E12.5 and 13.5 the single outflow vessel is connected to the right ventricle through a primitive valve with four cusps

persistent truncus arteriosus ( J:88412 )

• at E12.5 and 13.5 all embryos (N = 7) have defective septation of the truncus arteriosis

• in 6 of the 7 no septation is found

• the persistent truncus arteriosis forms the origin of the pulmonary arteries and arch of the aorta

double outlet right ventricle ( J:88412 )

• at E12.5 and 13.5 the single outflow vessel is connected to the right ventricle

endocrine/exocrine glands

abnormal thymus morphology ( J:88412 )

• at E12.5 and E13.5 in 5 out of 6 embryos the major axis of the thymus has not rotated caudad and it does not descend into the thorax

abnormal thyroid gland morphology ( J:88412 )

• at E12.5 and E13.5 in 3 out of 6 mutants the thyroid was shaped abnormally, lacking one or both lateral extensions

absent ultimobranchial body ( J:88412 )

• at E12.5 and E13.5 the ultimobranchial bodies normally associated with the thyroid are not formed (4 out of 6)

absent thyroid gland ( J:88412 )

• at E12.5 and E13.5 in 3 out of 6 mutants the thyroid was reduced or absent

small thyroid gland ( J:88412 )

• at E12.5 and E13.5 in 3 out of 6 mutants the thyroid was reduced or absent

immune system

abnormal thymus morphology ( J:88412 )

• at E12.5 and E13.5 in 5 out of 6 embryos the major axis of the thymus has not rotated caudad and it does not descend into the thorax

nervous system

open neural tube ( J:88412 )

• the rachischisis is located in the lumbo-sacral region and varies in size

• the posterior neural tube is closed in all cases

abnormal dorsal root ganglion morphology ( J:88412 )

• at E12.5 mutants have only the most cranial ganglia resulting in the presence of less than half as many ganglia as in wild-types

• no ganglia are detected at the level of the lower thoracic and lumbar spine

• the ganglia that are present are smaller than normal especially the most caudal ganglia

• the most caudal ganglia present sometimes consisted of two separate aggregates, one of large ganglion cells and one of small ganglion cells and satellite cells

abnormal spinal cord morphology ( J:88412 )

• the dorsal mantle layer of the spinal cord is reduced

craniofacial

abnormal pharyngeal arch artery morphology ( J:88412 )

• various abnormalities involving the abnormal regression or persistence of branchial arch arteries are found in 4 out of 5 embryos

• in 2 out of 5 embryos regression of right arch artery 4 results in the abnormal origin of the right subclavian artery

abnormal sixth pharyngeal arch artery morphology ( J:88412 )

• in 3 out of 5 embryos the left arch artery 6 regresses resulting in loss of the ductus arteriosus Botalli

embryo

abnormal pharyngeal arch artery morphology ( J:88412 )

• various abnormalities involving the abnormal regression or persistence of branchial arch arteries are found in 4 out of 5 embryos

• in 2 out of 5 embryos regression of right arch artery 4 results in the abnormal origin of the right subclavian artery

abnormal sixth pharyngeal arch artery morphology ( J:88412 )

• in 3 out of 5 embryos the left arch artery 6 regresses resulting in loss of the ductus arteriosus Botalli

open neural tube ( J:88412 )

• the rachischisis is located in the lumbo-sacral region and varies in size

• the posterior neural tube is closed in all cases

absent ultimobranchial body ( J:88412 )

• at E12.5 and E13.5 the ultimobranchial bodies normally associated with the thyroid are not formed (4 out of 6)

hematopoietic system

abnormal thymus morphology ( J:88412 )

• at E12.5 and E13.5 in 5 out of 6 embryos the major axis of the thymus has not rotated caudad and it does not descend into the thorax

Genotype
MGI:3844349

cx3

• Allelic Composition: Lbx1^tm1Thbr/Lbx1^tm1Thbr; Pax3^Sp-1H/Pax3^Sp-1H
• Genetic Background: involves: 101/H * 129S4/SvJae * C3H/HeH * C57BL/6

nervous system

open neural tube ( J:78622 )

• the neural tube is completely open along the rostrocaudal axis unlike in mice homozygous for either allele alone

embryo

open neural tube ( J:78622 )

• the neural tube is completely open along the rostrocaudal axis unlike in mice homozygous for either allele alone

Genotype
MGI:5636497

cx4

• Allelic Composition: a/a; Pax3^Sp-1H/Pax3^Sp-1H
• Genetic Background: involves: 101/H * C3H/HeH * C57BL/6

embryo

incomplete rostral neuropore closure ( J:19818 )

• in half of E13.5 embryos examined, parts of the rostral neural tube are not closed properly

nervous system

incomplete rostral neuropore closure ( J:19818 )

• in half of E13.5 embryos examined, parts of the rostral neural tube are not closed properly

abnormal lateral ventricle morphology ( J:19818 )

• incomplete closure of anterior neuropore leads to collapse of lateral ventricles

absent choroid plexus ( J:19818 )

• noted in lateral ventricles of E16.5 fetuses

abnormal cerebral cortex morphology ( J:19818 )

• E16.5 fetuses do not show lamination in the cerebral cortex

absent olfactory bulb ( J:19818 )

• noted at E16.5 of gestation

exencephaly ( J:19818 )

• in some mutants the rostral nueral tube does not close leaving the hindbrain, midbrain, and most of the forebrain exposed