Phenotypes Associated with This Genotype

Genotype
MGI:2658930

• Allelic Composition: Cyp27b1^tm1Dgo/Cyp27b1^tm1Dgo
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Bone histology of Cyp27b1^tm1Dgo/Cyp27b1^tm1Dgo mice

endocrine/exocrine glands

absent corpus luteum ( J:70030 )

♀

abnormal ovarian folliculogenesis ( J:70030 )

♀ • absence of mature follicles; all observed follicles were immature

absent mature ovarian follicles ( J:70030 )

♀

small ovary ( J:70030 )

♀

growth/size/body

decreased body weight ( J:70030 )

• reduced weight relative to controls at 7 weeks of age

• normal weight at birth

postnatal growth retardation ( J:70030 )

• exhibited at 7 weeks of age

homeostasis/metabolism

abnormal blood homeostasis ( J:70030 )

• absence of serum 1,25(OH)₂D

• elevated serum levevls of 25(OH)D (the 1,25(OH)₂D precursor)

increased circulating parathyroid hormone level ( J:70030 )

• elevated serum level of parathyroid hormone

decreased circulating calcium level ( J:70030 )

decreased circulating phosphate level ( J:70030 )

increased circulating alkaline phosphatase level ( J:70030 )

increased urine phosphate level ( J:70030 )

• increased urinary level of phosphate

immune system

decreased T cell number ( J:70030 )

• reduced populations of peripheral T lymphocytes

decreased osteoclast cell number ( J:70030 )

• reduced numbers of osteoclasts

enlarged lymph nodes ( J:70030 )

• enlarged ectopic lymph nodes in the neck

reproductive system

absent corpus luteum ( J:70030 )

♀

abnormal ovarian folliculogenesis ( J:70030 )

♀ • absence of mature follicles; all observed follicles were immature

absent mature ovarian follicles ( J:70030 )

♀

small ovary ( J:70030 )

♀

endometrium hypoplasia ( J:70030 )

♀ • poorly developed endometrium

small uterus ( J:70030 )

♀

anovulation ( J:70030 )

♀ • females did not ovulate

absent estrous cycle ( J:70030 )

♀ • females were acyclic

female infertility ( J:70030 )

♀

skeleton

decreased osteoclast cell number ( J:70030 )

• reduced numbers of osteoclasts

thickened long bone epiphysis ( J:70030 )

• increase in width at the hypertrophic zone

decreased bone mineralization ( J:70030 )

• inadequate mineralization

hematopoietic system

decreased T cell number ( J:70030 )

• reduced populations of peripheral T lymphocytes

decreased osteoclast cell number ( J:70030 )

• reduced numbers of osteoclasts

renal/urinary system

increased urine phosphate level ( J:70030 )

• increased urinary level of phosphate

integument

integument phenotype ( J:70030 )

N • alopecia was not observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rickets		DOID:10609		J:70030