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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 (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Bone histology of Cyp27b1tm1Dgo/Cyp27b1tm1Dgo mice

endocrine/exocrine glands
• absence of mature follicles
• all observed follicles were immature

growth/size/body
• reduced weight relative to controls at 7 weeks of age
• normal weight at birth
• exhibited at 7 weeks of age

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

immune system
• reduced populations of peripheral T lymphocytes
• reduced numbers of osteoclasts
• enlarged ectopic lymph nodes in the neck

reproductive system
• absence of mature follicles
• all observed follicles were immature
• poorly developed endometrium
• females did not ovulate
• females were acyclic

skeleton
• reduced numbers of osteoclasts
• increase in width at the hypertrophic zone
• inadequate mineralization

hematopoietic system
• reduced populations of peripheral T lymphocytes
• reduced numbers of osteoclasts

renal/urinary system
• increased urinary level of phosphate

integument
N
• alopecia was not observed

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
11/22/2016
MGI 6.06
The Jackson Laboratory