Phenotypes Associated with This Genotype

Genotype
MGI:2675470

• Allelic Composition: Traf6^tm1Jino/Traf6^tm1Jino
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Abnormal phenotypes in skin and hair of Traf6^tm1Jino/Traf6^tm1Jino mice

mortality/aging

postnatal lethality, complete penetrance ( J:77453 )

• death between 17 and 19 days of age

preweaning lethality, incomplete penetrance ( J:77453 )

• homozygous mice represented only 12% of offspring

craniofacial

failure of tooth eruption ( J:77453 )

• indicative of osteopetrosis

growth/size/body

failure of tooth eruption ( J:77453 )

• indicative of osteopetrosis

decreased body size ( J:77453 )

decreased body weight ( J:77453 )

• 30% to 50% weight reduction at time of death relative to controls

postnatal growth retardation ( J:77453 )

• mice were smaller than littermates by 6 days of age

hematopoietic system

abnormal osteoclast differentiation ( J:77453 )

• osteoclast precursor cells were unable to differentiate to functional osteoclasts in response to osteoclast differentiation factor

decreased immature B cell number ( J:77453 )

• reduction of the relative number of immature B cells in bone marrow

• normal ratio of proB to preB cells

• normal thymocyte development

immune system

abnormal osteoclast differentiation ( J:77453 )

• osteoclast precursor cells were unable to differentiate to functional osteoclasts in response to osteoclast differentiation factor

decreased immature B cell number ( J:77453 )

• reduction of the relative number of immature B cells in bone marrow

• normal ratio of proB to preB cells

• normal thymocyte development

decreased lymph node number ( J:77453 )

• absence of mesenteric, mandibular, inguinal, axillary, and para-aortic lymph nodes

skeleton

abnormal osteoclast differentiation ( J:77453 )

• osteoclast precursor cells were unable to differentiate to functional osteoclasts in response to osteoclast differentiation factor

failure of tooth eruption ( J:77453 )

• indicative of osteopetrosis

osteopetrosis ( J:77453 )

endocrine/exocrine glands

abnormal sebaceous gland morphology ( J:77350 )

• formation of sebaceous glands is severely impaired, including reduced size of anal glands

small perianal sebaceous gland ( J:77350 )

• reduced size of anal glands

abnormal male preputial gland morphology ( J:77350 )

♂ • formation is impaired

abnormal Meibomian gland development ( J:77350 )

• formation is impaired

absent eccrine glands ( J:77350 )

• no sweat glands are found in the palmar skin of 8 day old mutants

limbs/digits/tail

absent eccrine glands ( J:77350 )

• no sweat glands are found in the palmar skin of 8 day old mutants

kinked tail ( J:77350 )

• distinctive kink near the tip of the tail

pigmentation

abnormal skin pigmentation ( J:77350 )

• skin is lighter in color than wild-type in the first few days after birth, however it gradually becomes pigmented

vision/eye

abnormal Meibomian gland development ( J:77350 )

• formation is impaired

reproductive system

abnormal male preputial gland morphology ( J:77350 )

♂ • formation is impaired

renal/urinary system

abnormal male preputial gland morphology ( J:77350 )

♂ • formation is impaired

integument

abnormal sebaceous gland morphology ( J:77350 )

• formation of sebaceous glands is severely impaired, including reduced size of anal glands

small perianal sebaceous gland ( J:77350 )

• reduced size of anal glands

abnormal male preputial gland morphology ( J:77350 )

♂ • formation is impaired

abnormal Meibomian gland development ( J:77350 )

• formation is impaired

absent eccrine glands ( J:77350 )

• no sweat glands are found in the palmar skin of 8 day old mutants

abnormal coat/ hair morphology ( J:77350 )

• mutants have a single type of pelage hairs, which has two or three rows of air cells and many constrictions; based on time of hair follicle formation, this hair type is not guard hair but may be abnormal awl hairs

alopecia ( J:77350 )

• focal alopecia behind the ears and alopecia of the tail

absent guard hair ( J:77350 )

• no guard hair follicles are seen in juvenile mutants

abnormal hair follicle development ( J:77350 )

• from E14 to E17, mutants have no hair follicle buds and after E18, hair follicles are detected on the belly but are absent in the dorsal region

• no pigmented hair follicles are seen in the dorsal skin at 1 day of age, however the numbers of developing small hair follicles without melanocytes is comparable with controls

translucent skin ( J:77350 )

• homozygotes have more translucent skin than controls and appear similar to albino neonates

abnormal skin pigmentation ( J:77350 )

• skin is lighter in color than wild-type in the first few days after birth, however it gradually becomes pigmented

cellular

abnormal osteoclast differentiation ( J:77453 )

• osteoclast precursor cells were unable to differentiate to functional osteoclasts in response to osteoclast differentiation factor

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypohidrotic ectodermal dysplasia		DOID:14793		J:77350