All Phenotypes Pds5a<Gt(RRM243)Byg> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pds5a^{Gt(RRM243)Byg}
gene trap RRM243, BayGenomics
MGI:3847257

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pds5a^{Gt(RRM243)Byg}/Pds5a^{Gt(RRM243)Byg}	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	MGI:3847290
ht2	Pds5a^{Gt(RRM243)Byg}/Pds5a⁺	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	MGI:3847291
cx3	Pds5a^{Gt(RRM243)Byg}/Pds5a^{Gt(RRM243)Byg} Pds5b^tm1Jmi/Pds5b^tm1Jmi	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3847292
cx4	Pds5a^{Gt(RRM243)Byg}/Pds5a⁺ Pds5b^tm1Jmi/Pds5b^tm1Jmi	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3847293
cx5	Pds5a^{Gt(RRM243)Byg}/Pds5a^{Gt(RRM243)Byg} Pds5b^tm1Jmi/Pds5b⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3847294

Allelic Composition	Pds5a^{Gt(RRM243)Byg}/Pds5a^{Gt(RRM243)Byg}
Genetic Background	involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pds5a^{Gt(RRM243)Byg} mutation (0 available); any Pds5a mutation (81 available)

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

Pds5a^{Gt(RRM243)Byg}/Pds5a^{Gt(RRM243)Byg} mice display growth retardation, abnormal skeletal patterning and cleft pallet

mortality/aging

neonatal lethality, complete penetrance ( J:148890 )

• mice die within 24 hours of birth

skeleton

abnormal sternum morphology ( J:148890 )

• in 5 of 10 mice

abnormal sternocostal joint morphology ( J:148890 )

• mice exhibit ectopic rib-sternum conjunctions

abnormal rib morphology ( J:148890 )

• all mice exhibit cervical ribs due to a fusion of C7 and T1 or a transformation of C7 to T1 unlike in wild-type mice

abnormal vertebrae morphology ( J:148890 )

• 17 of 26 mice exhibit abnormal patterns of vertebral ossification compared with wild-type mice

abnormal cervical atlas morphology ( J:148890 )

• the ossification centers in C1 remain unfused unlike in wild-type mice

cervical vertebral fusion ( J:148890 )

• fusion of C7 and T1 in some mice

cervical vertebral transformation ( J:148890 )

• transformation of C7 to T1 in some mice

cardiovascular system

double outlet right ventricle ( J:148890 )

• in 1 of 25 mice

atrial septal defect ( J:148890 )

• in 1 of 25 mice

atrioventricular septal defect ( J:148890 )

• 5 of 25 mice exhibit atrioventricular canal defects

perimembraneous ventricular septal defect ( J:148890 )

• in 10 of 25 mice

renal/urinary system

decreased renal glomerulus number ( J:148890 )

renal hypoplasia ( J:148890 )

absent kidney ( J:148890 )

• 8 of 61 mice exhibit unilateral or bilateral kidney agenesis unlike wild-type mice

single kidney ( J:148890 )

• 8 of 61 mice exhibit unilateral or bilateral kidney agenesis unlike wild-type mice

nervous system

nervous system phenotype ( J:148890 )

N	• unlike in Pds5b null mice, sympathetic neuronal projections are normal

abnormal enteric nervous system morphology ( J:148890 )

• at E12.5, enteric nervous system precursors fail to migrate much beyond the ileocecal junction unlike in wild-type mice

growth/size/body

palatal shelves fail to meet at midline ( J:148890 )

cleft secondary palate ( J:148890 )

• in 20 of 61 mice

decreased birth body size ( J:148890 )

decreased birth weight ( J:148890 )

craniofacial

palatal shelves fail to meet at midline ( J:148890 )

cleft secondary palate ( J:148890 )

• in 20 of 61 mice

digestive/alimentary system

palatal shelves fail to meet at midline ( J:148890 )

cleft secondary palate ( J:148890 )

• in 20 of 61 mice

respiratory system

respiratory distress ( J:148890 )

• at birth

reproductive system

reproductive system phenotype ( J:148890 )

N	• unlike in Pds5b null mice, germ cell differentiation is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Cornelia de Lange syndrome		DOID:11725	OMIM:PS122470	J:148890

Allelic Composition	Pds5a^{Gt(RRM243)Byg}/Pds5a⁺
Genetic Background	involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pds5a^{Gt(RRM243)Byg} mutation (0 available); any Pds5a mutation (81 available)

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

cardiovascular system

abnormal heart morphology ( J:148890 )

• 1 of 19 mice exhibit tetralogy of Fallot

atrial septal defect ( J:148890 )

• in 3 of 19 mice

ventricular septal defect ( J:148890 )

• seen in one of 19 mice

craniofacial

palatal shelves fail to meet at midline ( J:148890 )

cleft secondary palate ( J:148890 )

• in 4 of 77 mice

digestive/alimentary system

palatal shelves fail to meet at midline ( J:148890 )

cleft secondary palate ( J:148890 )

• in 4 of 77 mice

growth/size/body

palatal shelves fail to meet at midline ( J:148890 )

cleft secondary palate ( J:148890 )

• in 4 of 77 mice

Allelic Composition	Pds5a^{Gt(RRM243)Byg}/Pds5a^{Gt(RRM243)Byg} Pds5b^tm1Jmi/Pds5b^tm1Jmi
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pds5a^{Gt(RRM243)Byg} mutation (0 available); any Pds5a mutation (81 available)
Pds5b^tm1Jmi mutation (0 available); any Pds5b mutation (100 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:148890 )

• no mice are obtained at E9.5

Allelic Composition	Pds5a^{Gt(RRM243)Byg}/Pds5a⁺ Pds5b^tm1Jmi/Pds5b^tm1Jmi
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

Pds5a^{Gt(RRM243)Byg}/Pds5a^{Gt(RRM243)Byg}, Pds5a^{Gt(RRM243)Byg}/Pds5a^{Gt(RRM243)Byg} Pds5b^tm1Jmi/Pds5b⁺ and Pds5a^{Gt(RRM243)Byg}/Pds5a⁺ Pds5b^tm1Jmi/Pds5b^tm1Jmi mice manifest cardiac abnormalities similar to those observed in Cornelia de Lange syndrome

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:148890 )

• mice die by E11.5

cardiovascular system

abnormal heart morphology ( J:148890 )

• severe

thin ventricle myocardium compact layer ( J:148890 )

• the ventricular compact myocardium is thin unlike in wild-type mice

conotruncal ridge hypoplasia ( J:148890 )

common truncal valve ( J:148890 )

• failed to separate aortic and pulmonic valve leaflets and the aorticopulmonary septum is absent unlike in wild-type mice

absent atrioventricular cushions ( J:148890 )

• endocardial cushions fail to develop

common atrioventricular valve ( J:148890 )

• valves fail to separate aortic and pulmonic valve leaflets, develop from the atrioventricular canal cushion tissue unlike in wild-type mice

dilated heart atrium ( J:148890 )

absent aorticopulmonary septum ( J:148890 )

complete atrioventricular septal defect ( J:148890 )

• mice develop a common atrioventricular canal unlike in wild-type mice

abnormal interventricular septum morphology ( J:148890 )

• hypoplasic or aplastic

nervous system

abnormal nervous system morphology ( J:148890 )

• mice exhibit peripheral nervous system defects

abnormal enteric nervous system morphology ( J:148890 )

• at E11.5, few enteric nervous system precursors migrate into the distal stomach unlike in wild-type mice and more severely than in Pds5a^{Gt(RRM243)Byg} homozygotes

vision/eye

aphakia ( J:148890 )

• hypoplastic lenses do not express alphaA-crystallin unlike wild-type lenses

small lens ( J:148890 )

• lens hypoplasia and sometimes agenesis are observed at E11.5 and E12.5

growth/size/body

embryonic growth retardation ( J:148890 )

• severe

embryo

embryonic growth retardation ( J:148890 )

• severe

muscle

thin ventricle myocardium compact layer ( J:148890 )

• the ventricular compact myocardium is thin unlike in wild-type mice

Allelic Composition	Pds5a^{Gt(RRM243)Byg}/Pds5a^{Gt(RRM243)Byg} Pds5b^tm1Jmi/Pds5b⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:148890 )

• mice die by E12.5

cardiovascular system

abnormal heart morphology ( J:148890 )

• severe

thin ventricle myocardium compact layer ( J:148890 )

• the compact ventricular myocardium is thin unlike in wild-type mice

conotruncal ridge hypoplasia ( J:148890 )

common truncal valve ( J:148890 )

• failed to separate aortic and pulmonic valve leaflets and the aorticopulmonary septum is absent unlike in wild-type mice

persistent truncus arteriosus ( J:148890 )

common atrioventricular valve ( J:148890 )

• endocardial cushions fail to develop separate aortic and pulmonic valve leaflets

dilated heart atrium ( J:148890 )

absent aorticopulmonary septum ( J:148890 )

complete atrioventricular septal defect ( J:148890 )

• mice develop a common atrioventricular canal unlike in wild-type mice

abnormal interventricular septum morphology ( J:148890 )

• hypoplasic or aplastic

nervous system

abnormal nervous system morphology ( J:148890 )

• mice exhibit peripheral nervous system defects

abnormal enteric nervous system morphology ( J:148890 )

• at E12.5, enteric nervous system precursors fail to migrate much beyond the ileocecal junction unlike in wild-type mice and more severely than in Pds5a^{Gt(RRM243)Byg} homozygotes

vision/eye

small lens ( J:148890 )

• agenesis and sometimes lens hypoplasia are observed at E11.5 and E12.5

abnormal eye development ( J:148890 )

• at E10.5, reduced contact between the lens placode and the optic vesicle is observed compared to in wild-type mice

abnormal lens development ( J:148890 )

• the peripheral sections of the lens placode are thinner than normal and have fewer cells than in wild-type mice

abnormal optic vesicle formation ( J:148890 )

• distorted shape

growth/size/body

embryonic growth retardation ( J:148890 )

• severe

embryo

embryonic growth retardation ( J:148890 )

• severe

muscle

thin ventricle myocardium compact layer ( J:148890 )

• the compact ventricular myocardium is thin unlike in wild-type mice

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