Phenotypes associated with this allele

• Allele Symbol: Cyp11a1^tm1Bcc
• Allele Name: targeted mutation 1, Bon-Chu Chung
• Allele ID: MGI:2183813
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cyp11a1^tm1Bcc/Cyp11a1^tm1Bcc	involves: 129 * C57BL/6	MGI:2657258

Genotype
MGI:2657258

hm1

• Allelic Composition: Cyp11a1^tm1Bcc/Cyp11a1^tm1Bcc
• Genetic Background: involves: 129 * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:78062 )

• most progeny died within 2 days of birth, showing signs of dehydration

• few progeny survived past 7 days of age

• mice survived to adulthood with daily injection of corticosteroids

behavior/neurological

decreased food intake ( J:78062 )

• anorexia

decreased locomotor activity ( J:78062 )

endocrine/exocrine glands

abnormal adrenal cortex morphology ( J:78062 )

• disorganized adrenal cortex

enlarged adrenocortical cells ( J:78062 )

• enlarged and vacuolated cytoplasm, apparent at E18.5

small adrenal glands ( J:78062 )

absent bulbourethral gland ( J:78062 )

absent prostate gland anterior lobe ( J:78062 )

absent prostate gland ( J:78062 )

abnormal testis morphology ( J:78062 )

abnormal seminiferous tubule morphology ( J:78062 )

• contained normal spermatogonia

• contained abnormal spermatocytes, condensed chromatin surrounded by white halo and clear cytoplasm

small testis ( J:78062 )

growth/size/body

postnatal growth retardation ( J:78062 )

homeostasis/metabolism

increased circulating adrenocorticotropin level ( J:78062 )

• increased 200-fold relative to levels in wild-type littermates 2 days after birth

• significantly increased at E18.5

abnormal circulating potassium level ( J:78062 )

• increased serum levels, relative to wild-type littermates 2 days after birth

abnormal circulating sodium level ( J:78062 )

• decreased serum and urinary levels, relative to wild-type littermates 2 days after birth

abnormal lipid level ( J:78062 )

• accumulation of oil droplets in the adrenal cortex by 2 days of age

• accumulation of lipids in interstitial cells of testes by 2 days of age

• accumulation of lipids in interstitial cells around ovarian follicles by 13 days of age

decreased circulating corticosterone level ( J:78062 )

• reduced 30-fold relative to levels in wild-type littermates 2-5 days after birth

• levels were comprable with those of wild-type at E18.5, putatively due to a maternal supply

decreased circulating aldosterone level ( J:78062 )

• reduced >250-fold relative to levels in wild-type littermates 2-3 days after birth

muscle

muscular atrophy ( J:78062 )

reproductive system

absent bulbourethral gland ( J:78062 )

absent prostate gland anterior lobe ( J:78062 )

absent prostate gland ( J:78062 )

abnormal testis morphology ( J:78062 )

abnormal seminiferous tubule morphology ( J:78062 )

• contained normal spermatogonia

• contained abnormal spermatocytes, condensed chromatin surrounded by white halo and clear cytoplasm

small testis ( J:78062 )

abnormal spermatogenesis ( J:78062 )

absent scrotum ( J:78062 )

abnormal epididymis morphology ( J:78062 )

• reduced tubule size

abnormal epididymis epithelium morphology ( J:78062 )

• smaller columnar epithelium

• absence of microvilli

abnormal vas deferens morphology ( J:78062 )

• absence of microvilli

• thin muscle wall

• reduced lumen diameter

secondary sex reversal ( J:78062 )

• XY mice exhibited female external genitalia