All Phenotypes Fancl<gcd> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fancl^gcd/Fancl^gcd	B6.Cg-Fancl^gcd/Ceb	MGI:2660769
hm2	Fancl^gcd/Fancl^gcd	involves: C57BL/6 * FVB	MGI:2660766
hm3	Fancl^gcd/Fancl^gcd	involves: C57BL/6J * CBA/J	MGI:2660751
ht4	Fancl^gcd/Fancl^tm1Ceb	involves: 129S7/SvEvBrd * C57BL/6J * CBA	MGI:2660784
ht5	Fancl^gcd/Fancl^tm1Ceb	involves: 129/Sv * C57BL/6	MGI:2660791
ht6	Fancl^gcd/Fancl^tm1Ceb	involves: 129/Sv * C57BL/6 * FVB/N	MGI:2660790

Allelic Composition	Fancl^gcd/Fancl^gcd
Genetic Background	B6.Cg-Fancl^gcd/Ceb

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fancl^gcd mutation (0 available); any Fancl mutation (29 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:80424 )

• mutant embryos were observed at 9.5 dpc, but not at 10.5 dpc

• embryonic lethality was not observed on mixed backgrounds involving C57BL/6J and CBA/J or involving C57BL/6 and FVB

Allelic Composition	Fancl^gcd/Fancl^gcd
Genetic Background	involves: C57BL/6 * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fancl^gcd mutation (0 available); any Fancl mutation (29 available)

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

embryo

decreased embryo weight ( J:80424 )

• reduced embryonic weight on a mixed background involving C57BL/6 and FVB, however pups were of normal weight at birth

growth/size/body

decreased embryo weight ( J:80424 )

• reduced embryonic weight on a mixed background involving C57BL/6 and FVB, however pups were of normal weight at birth

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

Histological sections of adult Fancl^gcd/Fancl^gcd mouse gonads

endocrine/exocrine glands

abnormal endometrial gland morphology ( J:13553 )

• reduced complexity of uterine glands

decreased corpora lutea number ( J:21254 )

• only a few corpora lutea are detected at 2.5 and 5 months of age

impaired ovarian folliculogenesis ( J:13553 , J:21254 )

(J:13553)

• significant absence of developing follicles at 2.5 and 5 months of age (J:21254)

small ovary ( J:13553 , J:21254 )

(J:13553)

• 80-90% reduction in mass relative to controls (J:21254)

ovary cyst ( J:21254 )

• hemorrhagic cysts were observed

abnormal seminiferous tubule morphology ( J:21254 )

• 50-70% of the tubules lacked all cells but sertioli, however normal weight and histology of seminal vesicles, coagulating glands, prostate, bulbourethral glands, and preputial glands

small testis ( J:21254 )

• testicular mass was approximately 1/3 that of controls

growth/size/body

ovary cyst ( J:21254 )

• hemorrhagic cysts were observed

homeostasis/metabolism

increased circulating follicle stimulating hormone level ( J:13553 )

reproductive system

oligozoospermia ( J:21254 )

• sperm counts were 10% of those of wild-type

decreased primordial germ cell number ( J:21254 , J:80424 )

• depletion evident at 10.25 dpc, when mice had approximatly 1/3 the primordial germ cells as wild-type (J:80424)

decreased primordial germ cell proliferation ( J:80424 )

• reduced primordial germ cell (PGC) prolifertation

• normal PGC migration

abnormal seminiferous tubule morphology ( J:21254 )

• 50-70% of the tubules lacked all cells but sertioli, however normal weight and histology of seminal vesicles, coagulating glands, prostate, bulbourethral glands, and preputial glands

small testis ( J:21254 )

• testicular mass was approximately 1/3 that of controls

abnormal female reproductive system morphology ( J:21254 )

• the female reproductive tract is pale, thin, and thread-like with a castrate appearance

abnormal endometrial gland morphology ( J:13553 )

• reduced complexity of uterine glands

decreased corpora lutea number ( J:21254 )

• only a few corpora lutea are detected at 2.5 and 5 months of age

impaired ovarian folliculogenesis ( J:13553 , J:21254 )

(J:13553)

• significant absence of developing follicles at 2.5 and 5 months of age (J:21254)

small ovary ( J:13553 , J:21254 )

(J:13553)

• 80-90% reduction in mass relative to controls (J:21254)

ovary cyst ( J:21254 )

• hemorrhagic cysts were observed

thin myometrium ( J:13553 , J:21254 )

(J:13553)

• the thickness of the muscularis externa is significantly reduced (J:21254)

small uterine cervix ( J:21254 )

• 80-90% reduction in mass relative to controls

small uterus ( J:13553 , J:21254 )

• reduced thickness of serosa, myometrium, and endometrium (J:13553)

• reduced complexity of uterine glands (J:13553)

• 80-90% reduction in mass relative to controls (J:21254)

small epididymis ( J:21254 )

• epididymal mass was approximately 1/3 that of controls

decreased superovulation rate ( J:13553 )

• reduced ovulation observed in prepubertal females after superovulation regime

failure of superovulation ( J:13553 )

• no ovulation observed in postpubertal females after superovulation regime

abnormal estrous cycle ( J:13553 )

• females initially exhibit a normal 4-5 day cycle, but begin to cycle irregularly by 6-8 weeks of age

absent estrous cycle ( J:13553 )

• absence of oestrus cycling by 20 weeks of age

female infertility ( J:13553 , J:21254 )

• females are infertile, however mutant mice display normal sexual development in terms of sexual behavior and mammary gland histology (J:13553)

• females are infertile however have normal timing of vaginal opening (J:21254)

male infertility ( J:21254 )

cellular

oligozoospermia ( J:21254 )

• sperm counts were 10% of those of wild-type

decreased primordial germ cell number ( J:21254 , J:80424 )

• depletion evident at 10.25 dpc, when mice had approximatly 1/3 the primordial germ cells as wild-type (J:80424)

decreased primordial germ cell proliferation ( J:80424 )

• reduced primordial germ cell (PGC) prolifertation

• normal PGC migration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
46 XX gonadal dysgenesis		DOID:14450	OMIM:PS233300	J:13553

Allelic Composition	Fancl^gcd/Fancl^tm1Ceb
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fancl^gcd mutation (0 available); any Fancl mutation (29 available)
Fancl^tm1Ceb mutation (0 available); any Fancl mutation (29 available)

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

mortality/aging

prenatal lethality, complete penetrance ( J:80424 )

• lethality on a 129/Sv background

Allelic Composition	Fancl^gcd/Fancl^tm1Ceb
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

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

mortality/aging

prenatal lethality, complete penetrance ( J:80424 )

• lethality on a mixed background involving 129/Sv and C57BL/6

Allelic Composition	Fancl^gcd/Fancl^tm1Ceb
Genetic Background	involves: 129/Sv * C57BL/6 * FVB/N

Find Mice

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

endocrine/exocrine glands

abnormal Sertoli cell morphology ( J:80424 )

• >90% of seminiferous tubules contained vacuolated sertoli cells

small testis ( J:80424 )

• approximately 1/3 the size of wild-type

reproductive system

absent germ cells ( J:80424 )

• deficiency observed at 10.5 dpc

abnormal Sertoli cell morphology ( J:80424 )

• >90% of seminiferous tubules contained vacuolated sertoli cells

small testis ( J:80424 )

• approximately 1/3 the size of wild-type

female infertility ( J:80424 )

male infertility ( J:80424 )

cellular

absent germ cells ( J:80424 )

• deficiency observed at 10.5 dpc

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23