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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pds5btm1Jmi
targeted mutation 1, Jeffrey Milbrandt
MGI:3722688
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pds5btm1Jmi/Pds5btm1Jmi involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3723223
cx2
Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg
Pds5btm1Jmi/Pds5btm1Jmi
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3847292
cx3
Pds5aGt(RRM243)Byg/Pds5a+
Pds5btm1Jmi/Pds5btm1Jmi
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3847293
cx4
Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg
Pds5btm1Jmi/Pds5b+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3847294


Genotype
MGI:3723223
hm1
Allelic
Composition
Pds5btm1Jmi/Pds5btm1Jmi
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pds5btm1Jmi mutation (0 available); any Pds5b mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• while Mendelian ratios are present at E16.5, only 75% of expected mice are born
• no mice survive beyond P1 due to cardiac and/or respiratory abnormalities

cellular
• at E12.5, fewer germ cells are identified and there is a 30% reduction in in the number of dividing germ cells
• fewer germ cells are found in the testes and ovaries with the testes being more severely affected
• however, no defects in chromatid cohesion are observed
• at E16.5, mice exhibit an 80% reduction in the germ cell numbers in the testes and explanted germ cells fail to undergo spermatogenesis

reproductive system
• at E12.5, fewer germ cells are identified and there is a 30% reduction in in the number of dividing germ cells
• fewer germ cells are found in the testes and ovaries with the testes being more severely affected
• however, no defects in chromatid cohesion are observed
• at E16.5, mice exhibit an 80% reduction in the germ cell numbers in the testes and explanted germ cells fail to undergo spermatogenesis

craniofacial
• some mice exhibit unfused ossification centers in the vertebrae (5 of 18 mice) and hyoid bone
• at birth, mice exhibit short snouts, short low chin, and thin upper lip
• short low chin at birth
• the upper lip is thin at birth
• posterior palate bones fail to extend and meet along the midline
• mice exhibit a complete cleft of the secondary palate
• at E14.5, the palatine shelf is abnormal
• at E18.5, the medial-edge epithelia of the two palatine shelves are shorter and fail to fuse
• at birth

skeleton
• some mice exhibit unfused ossification centers in the vertebrae (5 of 18 mice) and hyoid bone
• short low chin at birth
• all mice have either unfused ossification centers or lack ossification of the sternebrae
• loss or hypoplasia of the thirteenth rib occurs in all mice
• some mice exhibit a fusion of an extensively ossified rib analge at C7 and the costal cartilage of the T1 rib (10 of 18 mice)
• some mice exhibit unfused ossification centers in the vertebrae (5 of 18 mice) and hyoid bone
• some mice exhibit delayed ossification of digits and vertebrae

cardiovascular system
• 15 of 24 mice have heart defects including atrial septal defects of the secundum type (in 6 of 24 mice), ventricular septal defects (in 12 of 24 mice), and common atrioventricular canal defect (in one mouse)
• 6 of 24 mice exhibit atrial septal defects of the secundum type
• one mouse exhibited common atrioventricular canal defect
• 12 of 24 mice exhibit ventricular septal defects
• one mouse had a large perimembranous ventricular septal defect with anterior malaligment of the outlet septum causing the aorta to shift over the ventricular septal defect towards the right ventricle

nervous system
• at E12.5, enteric nervous system precursors fail to migrate past the ileocecal junction
• neuron density in the distal bowl is lower than in wild-type mice
• 70% of mice exhibit varying degrees of abnormal innervation and ganglion formation in the distal colon
• however, the small bowel is innervated normally
• in 40% of mice the superior cervical ganglion is located far caudal to its normal position
• the carotid nerves are thin in all mice and in 30% of mice there is a unilateral or bilateral absence of the carotid nerve

growth/size/body
• at birth, mice exhibit short snouts, short low chin, and thin upper lip
• short low chin at birth
• the upper lip is thin at birth
• posterior palate bones fail to extend and meet along the midline
• mice exhibit a complete cleft of the secondary palate
• at E14.5, the palatine shelf is abnormal
• at E18.5, the medial-edge epithelia of the two palatine shelves are shorter and fail to fuse
• at birth
• at birth, mice are smaller exhibiting a reduced body height
• at birth
• fetal growth retardation occurs after E16.5

respiratory system
• at birth, mice exhibit signs of respiratory distress such as labored breathing, use of accessory muscles of respiration as indicated by head bobbing and intercostals and abdominal retractions, cyanosis and pallor

homeostasis/metabolism
• at birth

digestive/alimentary system
• posterior palate bones fail to extend and meet along the midline
• mice exhibit a complete cleft of the secondary palate
• at E14.5, the palatine shelf is abnormal
• at E18.5, the medial-edge epithelia of the two palatine shelves are shorter and fail to fuse

limbs/digits/tail

integument
• at birth




Genotype
MGI:3847292
cx2
Allelic
Composition
Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg
Pds5btm1Jmi/Pds5btm1Jmi
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pds5aGt(RRM243)Byg mutation (0 available); any Pds5a mutation (8 available)
Pds5btm1Jmi mutation (0 available); any Pds5b mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:3847293
cx3
Allelic
Composition
Pds5aGt(RRM243)Byg/Pds5a+
Pds5btm1Jmi/Pds5btm1Jmi
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pds5aGt(RRM243)Byg mutation (0 available); any Pds5a mutation (8 available)
Pds5btm1Jmi mutation (0 available); any Pds5b mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg, Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg Pds5btm1Jmi/Pds5b+ and Pds5aGt(RRM243)Byg/Pds5a+ Pds5btm1Jmi/Pds5btm1Jmi mice manifest cardiac abnormalities similar to those observed in Cornelia de Lange syndrome

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

mortality/aging

cardiovascular system
• the ventricular compact myocardium is thin unlike in wild-type mice
• failed to separate aortic and pulmonic valve leaflets and the aorticopulmonary septum is absent unlike in wild-type mice
• endocardial cushions fail to develop
• valves fail to separate aortic and pulmonic valve leaflets, develop from the atrioventricular canal cushion tissue unlike in wild-type mice
• mice develop a common atrioventricular canal unlike in wild-type mice

nervous system
• mice exhibit peripheral nervous system defects
• at E11.5, few enteric nervous system precursors migrate into the distal stomach unlike in wild-type mice and more severely than in Pds5aGt(RRM243)Byg homozygotes

vision/eye
• hypoplastic lenses do not express alphaA-crystallin unlike wild-type lenses
• lens hypoplasia and sometimes agenesis are observed at E11.5 and E12.5

growth/size/body

embryo




Genotype
MGI:3847294
cx4
Allelic
Composition
Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg
Pds5btm1Jmi/Pds5b+
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pds5aGt(RRM243)Byg mutation (0 available); any Pds5a mutation (8 available)
Pds5btm1Jmi mutation (0 available); any Pds5b mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg, Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg Pds5btm1Jmi/Pds5b+ and Pds5aGt(RRM243)Byg/Pds5a+ Pds5btm1Jmi/Pds5btm1Jmi mice manifest cardiac abnormalities similar to those observed in Cornelia de Lange syndrome

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

mortality/aging

cardiovascular system
• the compact ventricular myocardium is thin unlike in wild-type mice
• failed to separate aortic and pulmonic valve leaflets and the aorticopulmonary septum is absent unlike in wild-type mice
• endocardial cushions fail to develop separate aortic and pulmonic valve leaflets
• mice develop a common atrioventricular canal unlike in wild-type mice

nervous system
• mice exhibit peripheral nervous system defects
• 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 Pds5aGt(RRM243)Byg homozygotes

vision/eye
• agenesis and sometimes lens hypoplasia are observed at E11.5 and E12.5
• at E10.5, reduced contact between the lens placode and the optic vesicle is observed compared to in wild-type mice
• the peripheral sections of the lens placode are thinner than normal and have fewer cells than in wild-type mice

growth/size/body

embryo





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last database update
09/22/2020
MGI 6.16
The Jackson Laboratory