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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Abcc6tm1Jfk
targeted mutation 1 John F Klement
MGI:3045236
Summary 6 genotypes


Genotype
MGI:6241539
hm1
Allelic
Composition		 Abcc6tm1Jfk/Abcc6tm1Jfk
Genetic
Background		 B6.129S1-Abcc6tm1Jfk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc6tm1Jfk mutation (1 available); any Abcc6 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
integument
calcified skin ( J:252837 )
• calcification of the fibrous capsule surrounding the muzzle vibrissae occurs at 15 weeks of age
• calcification is less severe than when combined with the Enpp1asj allele

growth/size/body
abnormal snout skin morphology ( J:252837 )

homeostasis/metabolism

craniofacial




Genotype
MGI:3605029
hm2
Allelic
Composition		 Abcc6tm1Jfk/Abcc6tm1Jfk
Genetic
Background		 involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc6tm1Jfk mutation (1 available); any Abcc6 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye

cardiovascular system

renal/urinary system

integument
abnormal vibrissa follicle morphology ( J:101372 )
• the capsule surrounding the vibrissae shows progressive mineralization of collagen fibrils and elastic fibers starting around 5 weeks of age

homeostasis/metabolism
calcinosis ( J:101372 )
• profound patchy mineralization of a number of tissues including the capsule surrounding the sinuses of vibrissae, medium sized arteries, the skin, retina, kidney, and interscapular brown fat is seen at 428 to 454 days of age; however no mineralization is seen in the lung or liver and serum calcium, phosphorus and protein levels are normal
• the degree of calcification progressively increases in homozygotes at 1.5, 6, and 22 months of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
pseudoxanthoma elasticum DOID:2738 OMIM:177850
OMIM:264800
 J:101372




Genotype
MGI:5695110
cx3
Allelic
Composition		 Abcc6tm1Jfk/Abcc6tm1Jfk
Samd9ltm1Homy/Samd9ltm1Homy
Genetic
Background		 B6.129-Samd9ltm1Homy Abcc6tm1Jfk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc6tm1Jfk mutation (1 available); any Abcc6 mutation (76 available)
Samd9ltm1Homy mutation (1 available); any Samd9l mutation (95 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
calcinosis ( J:225110 )
• aberrant mineralization is seen in the vibrissae, the kidneys, heart, and the eyes, however mineralization is similar to that seen in single Abcc5tm1Jfk homozygotes

integument
abnormal vibrissa morphology ( J:225110 )
• muzzle skin following initiation of a diet that accelerates ectopic mineralization shows progressive mineralization of connective tissue sheath of vibrissae and calcium deposits; mineralization levels are similar to that seen in single Abcc5tm1Jfk homozygotes




Genotype
MGI:6241527
cx4
Allelic
Composition		 Abcc6tm1Jfk/Abcc6tm1Jfk
Enpp1asj/Enpp1+
Genetic
Background		 B6.Cg-Abcc6tm1Jfk Enpp1asj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc6tm1Jfk mutation (1 available); any Abcc6 mutation (76 available)
Enpp1asj mutation (1 available); any Enpp1 mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism

integument
calcified skin ( J:252837 )
• calcification of the fibrous capsule surrounding the muzzle vibrissae occurs at 15 weeks of age
• calcification is more severe than with the Abcc6tm1Jfk null allele alone and slightly less severe than in double null mutant

growth/size/body
abnormal snout skin morphology ( J:252837 )

craniofacial




Genotype
MGI:6241540
cx5
Allelic
Composition		 Abcc6tm1Jfk/Abcc6tm1Jfk
Enpp1asj/Enpp1asj
Genetic
Background		 B6.Cg-Abcc6tm1Jfk Enpp1asj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc6tm1Jfk mutation (1 available); any Abcc6 mutation (76 available)
Enpp1asj mutation (1 available); any Enpp1 mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
integument
calcified skin ( J:252837 )
• severe calcification of the fibrous capsule surrounding the muzzle vibrissae by 15 weeks of age

growth/size/body
abnormal snout skin morphology ( J:252837 )

homeostasis/metabolism

craniofacial




Genotype
MGI:6241525
cx6
Allelic
Composition		 Abcc6tm1Jfk/Abcc6tm1Jfk
Nt5etm1Lft/Nt5etm1Lft
Genetic
Background		 B6.Cg-Abcc6tm1Jfk Nt5etm1Lft
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc6tm1Jfk mutation (1 available); any Abcc6 mutation (76 available)
Nt5etm1Lft mutation (3 available); any Nt5e mutation (30 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism

integument
calcified skin ( J:252837 )
• mild calcification of the fibrous capsule surrounding the muzzle vibrissae is observed by one year of age

growth/size/body
abnormal snout skin morphology ( J:252837 )

craniofacial




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory