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Phenotypes Associated with This Genotype
Genotype
MGI:2658930
Allelic
Composition
Cyp27b1tm1Dgo/Cyp27b1tm1Dgo
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cyp27b1tm1Dgo mutation (0 available); any Cyp27b1 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Bone histology of Cyp27b1tm1Dgo/Cyp27b1tm1Dgo mice

endocrine/exocrine glands
(J:70030)
(J:70030)
• absence of mature follicles (J:70030)
• absence of mature follicles (J:70030)
• all observed follicles were immature (J:70030)
• all observed follicles were immature (J:70030)
(J:70030)
(J:70030)

growth/size/body
• reduced weight relative to controls at 7 weeks of age (J:70030)
• normal weight at birth (J:70030)
• reduced weight relative to controls at 7 weeks of age (J:70030)
• normal weight at birth (J:70030)
• exhibited at 7 weeks of age (J:70030)
• exhibited at 7 weeks of age (J:70030)

homeostasis/metabolism
• absence of serum 1,25(OH)2D (J:70030)
• elevated serum levevls of 25(OH)D (the 1,25(OH)2D precursor) (J:70030)
• absence of serum 1,25(OH)2D (J:70030)
• elevated serum levevls of 25(OH)D (the 1,25(OH)2D precursor) (J:70030)
• elevated serum level of parathyroid hormone (J:70030)
• elevated serum level of parathyroid hormone (J:70030)
• increased urinary level of phosphate (J:70030)
• increased urinary level of phosphate (J:70030)

immune system
• reduced populations of peripheral T lymphocytes (J:70030)
• reduced populations of peripheral T lymphocytes (J:70030)
• reduced numbers of osteoclasts (J:70030)
• reduced numbers of osteoclasts (J:70030)
• enlarged ectopic lymph nodes in the neck (J:70030)
• enlarged ectopic lymph nodes in the neck (J:70030)

reproductive system
(J:70030)
(J:70030)
• absence of mature follicles (J:70030)
• absence of mature follicles (J:70030)
• all observed follicles were immature (J:70030)
• all observed follicles were immature (J:70030)
(J:70030)
(J:70030)
• poorly developed endometrium (J:70030)
• poorly developed endometrium (J:70030)
(J:70030)
(J:70030)
• females did not ovulate (J:70030)
• females did not ovulate (J:70030)
• females were acyclic (J:70030)
• females were acyclic (J:70030)
(J:70030)
(J:70030)

skeleton
• reduced numbers of osteoclasts (J:70030)
• reduced numbers of osteoclasts (J:70030)
• increase in width at the hypertrophic zone (J:70030)
• increase in width at the hypertrophic zone (J:70030)
• inadequate mineralization (J:70030)
• inadequate mineralization (J:70030)

hematopoietic system
• reduced populations of peripheral T lymphocytes (J:70030)
• reduced populations of peripheral T lymphocytes (J:70030)
• reduced numbers of osteoclasts (J:70030)
• reduced numbers of osteoclasts (J:70030)

renal/urinary system
• increased urinary level of phosphate (J:70030)
• increased urinary level of phosphate (J:70030)

integument
N
• alopecia was not observed (J:70030)
• alopecia was not observed (J:70030)

Mouse Models of Human Disease
OMIM ID Ref(s)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A; VDDR1A 264700 J:70030


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory