Phenotypes associated with this allele

• Allele Symbol: Clpp^{Gt(IST13563G11)Tigm}
• Allele Name: gene trap IST13563G11, Texas A&M Institute for Genomic Medicine
• Allele ID: MGI:5178248
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clpp^Gt(IST13563G11)Tigm/Clpp^Gt(IST13563G11)Tigm	involves: C57BL/6N	MGI:5532580

Genotype
MGI:5532580

hm1

• Allelic Composition: Clpp^{Gt(IST13563G11)Tigm}/Clpp^{Gt(IST13563G11)Tigm}
• Genetic Background: involves: C57BL/6N

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

mortality/aging

premature death ( J:203140 )

preweaning lethality, incomplete penetrance ( J:203140 )

• fewer than expected mice are produced from breeding heterozygotes

reproductive system

azoospermia ( J:203140 )

♂ • absence of spermatids and mature spermatozoa at 6 months

decreased corpora lutea number ( J:203140 )

♀

abnormal granulosa cell morphology ( J:203140 )

♀ • reduced numbers due to apoptosis

small ovary ( J:203140 )

♀ • at 3 months

abnormal seminiferous tubule epithelium morphology ( J:203140 )

♂ • spongiform changes with decreased number of dividing cells at 6 months

small testis ( J:203140 )

♂ • at 3 months

abnormal oogenesis ( J:203140 )

♀

arrest of spermatogenesis ( J:203140 )

♂ • at an early stages before spermatid generation

female infertility ( J:203140 )

♀

male infertility ( J:203140 )

♂

behavior/neurological

decreased startle reflex ( J:203140 )

• at 12 to 18 months

decreased vertical activity ( J:203140 )

• in an open field

decreased locomotor activity ( J:203140 )

• in an open field, mice exhibit decreased horizontal activity, movement number, total distance traveled, movement time, stereotype count, margin distance and center distance compared with wild-type mice

growth/size/body

decreased body length ( J:203140 )

decreased susceptibility to weight gain ( J:203140 )

♀ • throughout adult life

immune system

abnormal T cell activation ( J:203140 )

• increased activation in the spleen

dermatitis ( J:203140 )

• less prominent ulcerative dermatitis compared with wild-type mice

cellular

azoospermia ( J:203140 )

♂ • absence of spermatids and mature spermatozoa at 6 months

increased mitochondrial DNA content ( J:203140 )

• increased mtDNA in the testis, ovary, heart and brain

disorganized mitochondrial cristae ( J:203140 )

• in the subsarcolemmal space

increased mitochondrial size ( J:203140 )

• in the subsarcolemmal space with irregular cristae membrane organization

increased embryonic tissue cell apoptosis ( J:203140 )

♀ • in follicular granulosa cell layers

decreased fibroblast proliferation ( J:203140 )

• in mouse embryonic fibroblasts

early cellular replicative senescence ( J:203140 )

• in mouse embryonic fibroblasts

abnormal cellular respiration ( J:203140 )

• slightly decreased in muscle and heart cells without compensatory mitochondrial proliferation

• however, respiration in brain cells is normal

integument

dermatitis ( J:203140 )

• less prominent ulcerative dermatitis compared with wild-type mice

endocrine/exocrine glands

decreased corpora lutea number ( J:203140 )

♀

abnormal granulosa cell morphology ( J:203140 )

♀ • reduced numbers due to apoptosis

small ovary ( J:203140 )

♀ • at 3 months

abnormal seminiferous tubule epithelium morphology ( J:203140 )

♂ • spongiform changes with decreased number of dividing cells at 6 months

small testis ( J:203140 )

♂ • at 3 months

hematopoietic system

abnormal T cell activation ( J:203140 )

• increased activation in the spleen

embryo

increased embryonic tissue cell apoptosis ( J:203140 )

♀ • in follicular granulosa cell layers

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Perrault syndrome		DOID:0050857	OMIM:233400 OMIM:614129 OMIM:614926 OMIM:615300 OMIM:PS233400	J:203140