Mouse Genome Informatics
hm
    Cyp27b1tm1Dgo/Cyp27b1tm1Dgo
involves: 129S1/Sv * 129X1/SvJ * BALB/c
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Bone histology of Cyp27b1tm1Dgo/Cyp27b1tm1Dgo mice

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

growth/size
• 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 (J:70030)
• all observed follicles were immature (J:70030)
(J:70030)
• poorly developed endometrium (J:70030)
(J:70030)
• females did not ovulate (J:70030)
• females were acyclic (J:70030)

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 (J:70030)

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