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Phenotypes Associated with This Genotype
Genotype
MGI:3526688
Allelic
Composition
Cst6ichq/Cst6ichq
Genetic
Background
BALB/cJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cst6ichq mutation (1 available); any Cst6 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death by 12 days of age (J:41426)
• death by 12 days of age (J:41426)
• homozygotes die between 5 and 12 days of age (J:79976)
• homozygotes die between 5 and 12 days of age (J:79976)
• death caused by dehydration a result of increased transepidermal water loss (J:90417)
• death caused by dehydration a result of increased transepidermal water loss (J:90417)

cellular
• mitochondria in epidermis are larger, vesiculated, and contain lamellar-like structures that become dense and homogeneous (J:41426)
• mitochondria in epidermis are larger, vesiculated, and contain lamellar-like structures that become dense and homogeneous (J:41426)
• increase in keratinocyte proliferation (J:41426)
• increase in keratinocyte proliferation (J:41426)

endocrine/exocrine glands
• glands are small, infrequent and immature (J:41426)
• glands are small, infrequent and immature (J:41426)

growth/size/body
• 50% loss by day 11 (J:90417)
• 50% loss by day 11 (J:90417)

integument
• increase in keratinocyte proliferation (J:41426)
• increase in keratinocyte proliferation (J:41426)
• glands are small, infrequent and immature (J:41426)
• glands are small, infrequent and immature (J:41426)
• does not develop normal first hair coat (J:41426)
• few hair fibers emerge (J:41426)
• hair fibers have a prominent collar of cornified cells and break off near the surface (J:41426)
• cuticular defects including linear striation, perforations and pealing scales (J:41426)
• does not develop normal first hair coat (J:41426)
• few hair fibers emerge (J:41426)
• hair fibers have a prominent collar of cornified cells and break off near the surface (J:41426)
• cuticular defects including linear striation, perforations and pealing scales (J:41426)
• root sheaths are hyperplastic and cornified (J:41426)
• root sheaths are hyperplastic and cornified (J:41426)
• thickening from the junction of the infundibula to the junction of the dermis and hypodermal fat layer (J:41426)
• thickening from the junction of the infundibula to the junction of the dermis and hypodermal fat layer (J:41426)
• neutrophil and mast cell infiltration between follicles (J:41426)
• neutrophil and mast cell infiltration between follicles (J:41426)
• mitochondria in epidermis are large, vesiculated, and contain lamellar-like structures that become dense and homogeneous (J:41426)
• mitochondria in epidermis are large, vesiculated, and contain lamellar-like structures that become dense and homogeneous (J:41426)
• hair fiber remnants extend into stratum corneum (J:41426)
• contains an abundance of vacuoles or degenerating organelles (J:41426)
• hair fiber remnants extend into stratum corneum (J:41426)
• contains an abundance of vacuoles or degenerating organelles (J:41426)
• stratum corneum is thickened (J:41426)
• stratum corneum is thickened (J:41426)
• beginning at 6 days of age homozygotes develop a layer of compact orthokeratotic scales, initially on the dorsal skin (J:79976)
• beginning at 6 days of age homozygotes develop a layer of compact orthokeratotic scales, initially on the dorsal skin (J:79976)
• in interfollicular epidermis and follicular infundibular region (J:41426)
• in interfollicular epidermis and follicular infundibular region (J:41426)
• interfollicular epidermis and stratum corneum are thickened (J:41426)
• interfollicular epidermis and stratum corneum are thickened (J:41426)
• thick white (orthokeratotic) scales beginning at 5 days of age (J:41426)
• develops thick white coating by 9 days, primarily dorsal skin (J:41426)
• thick white (orthokeratotic) scales beginning at 5 days of age (J:41426)
• develops thick white coating by 9 days, primarily dorsal skin (J:41426)
• thick fold on anterior, dorsal, truncal skin (J:41426)
• compared to controls 6-8 day old mice exhibit increased thickness in dermis, malphigian layer and scale (J:41426)
• hypodermal fat layer and follicle length are not significantly thicker (J:41426)
• thick fold on anterior, dorsal, truncal skin (J:41426)
• compared to controls 6-8 day old mice exhibit increased thickness in dermis, malphigian layer and scale (J:41426)
• hypodermal fat layer and follicle length are not significantly thicker (J:41426)

Mouse Models of Human Disease
OMIM ID Ref(s)
Ichthyosis, Congenital, Autosomal Recessive 4b; ARCI4B 242500 J:41426 , J:90417


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory