Phenotypes associated with this allele

• Allele Symbol: Cst6⁺
• Allele Name: wild type
• Allele ID: MGI:2435008
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Cst6^em1(IMPC)Ccpcz/Cst6^+	C57BL/6NCrl-Cst6^em1(IMPC)Ccpcz/Ccpcz	MGI:7471955
ht2	Cst6^ichq/Cst6^+	involves: BALB/cJ	MGI:4429796

Genotype
MGI:7471955

ht1

• Allelic Composition: Cst6^{em1(IMPC)Ccpcz}/Cst6⁺
• Genetic Background: C57BL/6NCrl-Cst6^{em1(IMPC)Ccpcz}/Ccpcz

Data Sources

IMPC Data for Cst6

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

cardiovascular system

abnormal heart morphology ( J:211773 )

♂

IMPC - CCP-IMG

enlarged heart ( J:211773 )

♂

IMPC - CCP-IMG

growth/size/body

enlarged heart ( J:211773 )

♂

IMPC - CCP-IMG

enlarged spleen ( J:211773 )

♀

IMPC - CCP-IMG

hematopoietic system

abnormal spleen morphology ( J:211773 )

IMPC - CCP-IMG

enlarged spleen ( J:211773 )

♀

IMPC - CCP-IMG

small spleen ( J:211773 )

♂

IMPC - CCP-IMG

homeostasis/metabolism

increased circulating creatine kinase level ( J:211773 )

♀

IMPC - CCP-IMG

decreased circulating serum albumin level ( J:211773 )

♀

IMPC - CCP-IMG

immune system

abnormal spleen morphology ( J:211773 )

IMPC - CCP-IMG

enlarged spleen ( J:211773 )

♀

IMPC - CCP-IMG

small spleen ( J:211773 )

♂

IMPC - CCP-IMG

integument

abnormal skin morphology ( J:211773 )

♀

IMPC - CCP-IMG

limbs/digits/tail

abnormal digit morphology ( J:211773 )

♀

IMPC - CCP-IMG

long tibia ( J:211773 )

♂

IMPC - CCP-IMG

reproductive system

abnormal uterus morphology ( J:211773 )

♀

IMPC - CCP-IMG

hydrometra ( J:211773 )

♀

IMPC - CCP-IMG

skeleton

long tibia ( J:211773 )

♂

IMPC - CCP-IMG

abnormal rib morphology ( J:211773 )

♀

IMPC - CCP-IMG

rib fusion ( J:211773 )

♀

IMPC - CCP-IMG

vision/eye

abnormal retina morphology ( J:211773 )

♀

IMPC - CCP-IMG

Genotype
MGI:4429796

ht2

• Allelic Composition: Cst6^ichq/Cst6⁺
• Genetic Background: involves: BALB/cJ

cellular

abnormal mitochondrial morphology ( J:41426 )

• mitochondria in epidermis are larger, vesiculated, and contain lamellar-like structures that become dense and homogeneous

increased keratinocyte proliferation ( J:41426 )

• increase in keratinocyte proliferation

endocrine/exocrine glands

abnormal sebaceous gland morphology ( J:41426 )

• glands are small, infrequent and immature

small sebaceous gland ( J:41426 )

growth/size/body

decreased body size ( J:41426 )

decreased body weight ( J:90417 )

• 50% loss by day 11

integument

increased keratinocyte proliferation ( J:41426 )

• increase in keratinocyte proliferation

abnormal sebaceous gland morphology ( J:41426 )

• glands are small, infrequent and immature

small sebaceous gland ( J:41426 )

sparse hair ( J:41426 )

• does not develop normal first hair coat

• few hair fibers emerge

• hair fibers have a prominent collar of cornified cells and break off near the surface

• cuticular defects including linear striation, perforations and pealing scales

abnormal hair follicle morphology ( J:41426 )

• root sheaths are hyperplastic and cornified

abnormal skin morphology ( J:41426 )

mixed cellular infiltration to dermis ( J:41426 )

• neutrophil and mast cell infiltration between follicles

hyperkeratosis ( J:41426 )

• stratum corneum is thickened

orthokeratosis ( J:79976 )

• beginning at 6 days of age homozygotes develop a layer of compact orthokeratotic scales, initially on the dorsal skin

epidermal hyperplasia ( J:41426 )

• in interfollicular epidermis and follicular infundibular region

thick epidermis ( J:41426 )

• interfollicular epidermis and stratum corneum are thickened

scaly skin ( J:41426 )

• thick white (orthokeratotic) scales beginning at 5 days of age

• develops thick white coating by 9 days, primarily dorsal skin

abnormal skin condition ( J:41426 )

thick skin ( J:41426 )

• thick fold on anterior, dorsal, truncal skin

• compared to controls 6-8 day old mice exhibit increased thickness in dermis, malphigian layer and scale

• hypodermal fat layer and follicle length are not significantly thicker

mortality/aging

postnatal lethality, complete penetrance ( J:41426 , J:79976 , J:90417 )

• death by 12 days of age (J:41426)

• homozygotes die between 5 and 12 days of age (J:79976)

• death caused by dehydration a result of increased transepidermal water loss (J:90417)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive congenital ichthyosis 4B		DOID:0060713	OMIM:242500	J:41426 , J:90417