Overview

Also Known As:adrenocortical dysplasia

These mice carry a spontaneous mutation at the Acd locus characterized by darkened pigmentation, short, curly vibrissae, smaller overall size, and abnormal pelage.

Genetic overview

Genetic Background	Generation

Acd^acd

Allele Type	Gene Symbol	Gene Name
Spontaneous	Acd	adrenocortical dysplasia

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Research Applications

Developmental Biology Research
Endocrine Deficiency Research
Reproductive Biology Research
Cell Biology Research
Internal/Organ Research
Dermatology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

acd/acd homozygotes can be distinguished from their wildtype (?/+) littermates by darkened pigmentation, short, curly vibrissae, smaller overall size, and abnormal pelage. Hair growth is retarded and lacks zigzag and guard hairs producing a sparse coat. There is heavy pigmentation in the nose, ears, body, feet and tail, and foci of melanin are also found in the skin and lymph nodes. Tail kinks or polydactyly of the hind feet are sometimes found and external genitalia are underdeveloped. It is rare for homozygotes to breed. Hydronephrosis is sometimes found in post-wean aged homozygotes resulting from focal hypertrophy of ureteral epithelium which causes ureteral blockage. The adrenals are abnormal in both males and females. Although the size of the medullary cells is normal, the cortical cells and nuclei are much larger than normal with nuclear inclusions and many mitochondria in the cytoplasm. These mitochondria have tubular cristae and cholesterol ester droplets, which are indicative of steroidogenic cells. The juxtamedullary X-zone of the adrenals is absent. The plasma levels of adrenocortical trophic hormone are elevated, and in young females, but not males, serum coticosterone levels are lower. FACS analysis reveals increased ploidy in many tissues. Adrenals show twice the number of tetraploid cells as is found in wildtype controls, and also an increase in the percent of cells with a higher than tetraploid DNA content. Spleen and thymus cells from newborns also show increased ploidy and a small percentage of cells with increased ploidy is found in cardiac muscle. Fewer mitotic figures and an uptake of tritiated thymidine into the enlarged nuclei indicate a failure in the normal mitotic pathway subsequent to S-phase. acd/acd homozygotes have significantly reduced viability. Approximately 40% die within 24 hours of birth and more than half of the homozygotes weaned die before 10 weeks of age. These mutants are much smaller at birth than wildtype siblings and this disparity in relative weights increases with age. Few homozygotes survive beyond six months of age. (Sweet et al., 1988; Shire and Beamer, 1990; Beamer et al., 1994.)

Development

The acd mutation arose spontaneously in the DW/J colony at The Jackson Laboratory in 1985. The Pit1^dw mutation was bred out of this substrain of DW/J and in 1994 ?/+ females at F26 were bred with acd/+ males to generate embryos for cryopreservation.

Control Suggestions

Untyped from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Acd^acd

Allele Symbol: Acd^acd

Allele Name	adrenocortical dysplasia
Allele Type	Spontaneous
Allele Synonym(s)	acd
Gene Symbol and Name	Acd, adrenocortical dysplasia
Gene Synonym(s)
Strain of Origin	DW/J
Chromosome	8
General Note	This mutation occurred in a subline of DW/J that lacks the Pou1f1^dw mutation. J:18027
Molecular Note	This spontaneous mutation arose at The Jackson Laboratory in 1985. A point mutation (G to A) in the +5 position of the splice donor site in the third intron of the gene was revealed by DNA sequence analysis. RT-PCR analysis showed that aberrant transcripts were expressed from this allele, all of which are predicted to alter the reading frame of the protein.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Acd^acd related

Developmental Biology Research
- Internal/Organ Defects
  - adrenal cortex
  - kidney
- Postnatal Lethality
  - Homozygous
- Perinatal Lethality
  - Homozygous
- Skin and Hair Texture Defects
- Growth Defects
  - Growth Defects (homozygous)
- Embryonic Lethality (Homozygous)
  - incomplete
Endocrine Deficiency Research
- Adrenal Cortex Defects
  - Addison's disease
- Gonad Defects
- Skin Defects
Reproductive Biology Research
- Endocrine Deficiencies Affecting Gonads
- Fertility Defects
Cell Biology Research
- Cell Cycle Regulation
- Genes Regulating Growth and Proliferation
Internal/Organ Research
- Adrenal Cortex Defects
- Kidney Defects
Dermatology Research
- Color and White Spotting Defects
- Skin and Hair Texture Defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Acd^acd/Acd^acd
involves: DW/J

craniofacial phenotype

increased ear pigmentation
- heavy ear pigmentation

limbs/digits/tail phenotype

increased tail pigmentation
- heavy tail pigmentation

kinked tail
- noticeable at birth

polydactyly
- polydactyly of the rear feet noticeable at birth

mortality/aging

premature death
- none live beyond 6 months of age

pigmentation phenotype

hyperpigmentation
- heavy pigmentation of ears, snout, body, feet, and tail

increased ear pigmentation
- heavy ear pigmentation

increased tail pigmentation
- heavy tail pigmentation

renal/urinary system phenotype

abnormal kidney morphology
- kidney abnormalities are common

endocrine/exocrine gland phenotype

abnormal adrenal gland morphology
- adrenals are highly dysplastic

reproductive system phenotype

reduced fertility

growth/size/body region phenotype

increased ear pigmentation
- heavy ear pigmentation

hearing/vestibular/ear phenotype

increased ear pigmentation
- heavy ear pigmentation

integument phenotype

abnormal hair texture

curly vibrissae

increased ear pigmentation
- heavy ear pigmentation

increased tail pigmentation
- heavy tail pigmentation

retarded hair growth

short vibrissae

sparse hair

Genotype: Acd^acd/Acd^acd
DW/J-Acd Pou1f1<+>

endocrine/exocrine gland phenotype

abnormal adrenal gland morphology

adrenal gland hypoplasia
- majority of cells have enlarged nuclei

small adrenal glands

homeostasis/metabolism phenotype

abnormal adrenocorticotropin level

abnormal corticosterone level

abnormal pituitary hormone level

decreased circulating corticosterone level

increased adrenocorticotropin level

References

Additional References

Beamer WG; Sweet HO; Bronson RT; Shire JG; Orth DN; Davisson MT. 1994. Adrenocortical dysplasia: a mouse model system for adrenocortical insufficiency. J Endocrinol 141(1):33-43PubMed: 8014601 MGI: J:18027

Additional - Acd^acd related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- End Point Analysis:Acd
- Genotyping resources and troubleshooting
Breeding Considerations

Homozygotes do not breed and have significantly reduced viability - approximately 40% die within 24 hours of birth and more than half of the homozygotes weaned die before 10 weeks of age. Homozygotes can be distinguished from their wildtype littermates by darkened pigmentation, short, curly vibrissae, smaller overall size and abnormal pelage. See strain description for additional details. When maintaining a live colony, heterozygous mice heterozygous mice may be bred together or to wildtype mice from the colony.
- Additional Breeding and Husbandry Support
Appearance
- leaden agouti, normal size
  Related Genotype: A/A Mlph^ln/Mlph^ln ?/+
  
  darkly pigmented, sparse coat, curly short whiskers, some with tail kinks or hind foot polydactlyly
  Related Genotype: A/A Mlph^ln/Mlph^ln Acd^acd/Acd^acd
Citation
When using the adrenocortical dysplasia mouse strain in a publication, please cite the originating article(s) and include JAX stock #001595 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Wild-type for Acd<acd>, 1 pair minimum

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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General Terms and Conditions

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Licensing Information

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Also Known As:adrenocortical dysplasia

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Acdacd

Allele Symbol: Acdacd

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Acdacd related

Mammalian Phenotype Terms by Genotype

Genotype: Acdacd/Acdacdinvolves: DW/J

craniofacial phenotype

limbs/digits/tail phenotype

mortality/aging

pigmentation phenotype

renal/urinary system phenotype

endocrine/exocrine gland phenotype

reproductive system phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

integument phenotype

Genotype: Acdacd/AcdacdDW/J-Acd Pou1f1<+>

endocrine/exocrine gland phenotype

homeostasis/metabolism phenotype

References

Additional References

Additional - Acdacd related

Genotyping Protocols

Breeding Considerations

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Acd^acd

Allele Symbol: Acd^acd

Genotype: Acd^acd related

Genotype: Acd^acd/Acd^acd
involves: DW/J

Genotype: Acd^acd/Acd^acd
DW/J-Acd Pou1f1<+>

Additional - Acd^acd related