Phenotypes associated with this allele

• Allele Symbol: Atp7a^Mo-to
• Allele Name: tortoiseshell
• Allele ID: MGI:1856101
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Atp7a^Mo-to/Atp7a^+	B6.Cg-Atp7a^Mo-to/J	MGI:6324256
ht2	Atp7a^Mo-to/Atp7a^+	Not Specified	MGI:3794523
ot3	Atp7a^Mo-to/Y	Not Specified	MGI:3794524

Genotype
MGI:6324256

ht1

• Allelic Composition: Atp7a^Mo-to/Atp7a⁺
• Genetic Background: B6.Cg-Atp7a^Mo-to/J

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

homeostasis/metabolism

increased intestine copper level ( J:79328 )

♀ • mice exhibit increased copper levels along the surface of duodenal microvilli and within pinocytotic vesicles at the bases of microvilli, with copper extensively concentrated at the apex and base of each microvillus

♀ • numerous pinocytotic vesicles containing copper are seen within the duodenal mucosa

integument

abnormal hair shaft morphology ( J:79326 )

♀ • hair shafts are beaded in appearance (monilethrix), twisted (pili torti) or exhibit a rough nodular appearance

♀ • many non-pigmented hairs exhibit enlarged bitubular shafts, the tubules of the bitubular hair merge at the distal end of the shaft, and overlapping cuticle cells are sometimes seen at the site of merging

wavy vibrissae ( J:79326 )

♀ • while whiskers are wavy, they are structurally identical to wild-type whiskers

Genotype
MGI:3794523

ht2

• Allelic Composition: Atp7a^Mo-to/Atp7a⁺
• Genetic Background: Not Specified

cardiovascular system

aortic aneurysm ( J:5397 )

♀ • 25% of females display aortic aneurysms and 17% show S-shaped lesions (lesions/aneurysms involve the thoracic and abdominal aorta and its branches)

integument

variegated coat color ( J:24988 )

♀ • varicolored coat consisting of black, brown, yellowish, grey, and almost white

abnormal hair texture ( J:24988 )

♀ • mice exhibit a silkier texture of the hair

wavy vibrissae ( J:24988 )

♀ • slight waving of the vibrissae

limbs/digits/tail

abnormal limb bone morphology ( J:24988 )

♀ • some females exhibit skeletal abnormalities in the fore and hind limbs

pigmentation

variegated coat color ( J:24988 )

♀ • varicolored coat consisting of black, brown, yellowish, grey, and almost white

skeleton

abnormal limb bone morphology ( J:24988 )

♀ • some females exhibit skeletal abnormalities in the fore and hind limbs

Genotype
MGI:3794524

ot3

• Allelic Composition: Atp7a^Mo-to/Y
• Genetic Background: Not Specified

mortality/aging

prenatal lethality ( J:24988 )

♂ • no males are observed, indicating lethality before birth

cardiovascular system

aortic aneurysm ( J:5397 )

♂ • 81% of males develop aortic aneurysms