Phenotypes associated with this allele

• Allele Symbol: crsp
• Allele Name: cryptorchidism with white spotting
• Allele ID: MGI:1889324
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	crsp/crsp	FVB/N-crsp	MGI:2388127
hm2	crsp/crsp	involves: FVB/N	MGI:5473321
cx3	Cav1^tm1.1Aia/Cav1^tm1.1Aia crsp/crsp	involves: 129S7/SvEvBrd * C57BL/6J * FVB	MGI:5141498
cx4	Cav1^tm1.1Aia/Cav1^tm1.1Aia crsp/+	involves: 129S7/SvEvBrd * C57BL/6J * FVB	MGI:5141500
cx5	Rxfp2^tm1Aia/crsp	involves: 129S7/SvEvBrd * C57BL/6J * FVB/N	MGI:3603529

Genotype
MGI:2388127

hm1

• Allelic Composition: crsp/crsp
• Genetic Background: FVB/N-crsp

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:69948 )

• approximately 50% of mice die around 2 weeks of age of undetermined cause

pigmentation

variable body spotting ( J:69948 )

• on back and/or abdomen

variable depigmentation ( J:69948 )

• on back and/or abdomen

• visible 3-5 days after birth

endocrine/exocrine glands

cryptorchism ( J:69948 )

♂ • small bilateral undescended testis located in the high intraabdominal position

♂ • testes are located beneath the peritoneum near the kidney

growth/size/body

decreased body weight ( J:69948 )

• transient; 15 to 25% decreased body weight during the first three months of life; however, by four months of age, mutants show no significant difference in body weight compared to wild-type

reproductive system

azoospermia ( J:69948 )

♂ • in adults, only a few spermatogonial cells are present

cryptorchism ( J:69948 )

♂ • small bilateral undescended testis located in the high intraabdominal position

♂ • testes are located beneath the peritoneum near the kidney

arrest of spermatogenesis ( J:69948 )

♂

abnormal gubernaculum morphology ( J:69948 )

• extended gubernaculum

abnormal inguinal canal morphology ( J:69948 )

• inguinal canal fails to form

abnormal scrotum morphology ( J:69948 )

♂ • scrotal sac is not fully formed

male infertility ( J:69948 )

♂ • testes are histologically normal until day 15

♂ • sterility of the males is due to location of the testis as spermatogenesis was restored in 4 week old mutant males when the testis was removed from the abdominal area and placed under the skin in the scrotal area

integument

variable body spotting ( J:69948 )

• on back and/or abdomen

variable depigmentation ( J:69948 )

• on back and/or abdomen

• visible 3-5 days after birth

skeleton

abnormal gubernaculum morphology ( J:69948 )

• extended gubernaculum

cellular

azoospermia ( J:69948 )

♂ • in adults, only a few spermatogonial cells are present

Genotype
MGI:5473321

hm2

• Allelic Composition: crsp/crsp
• Genetic Background: involves: FVB/N

endocrine/exocrine glands

cryptorchism ( J:194006 )

• high intra-abdominal cryptorchidism

reproductive system

cryptorchism ( J:194006 )

• high intra-abdominal cryptorchidism

Genotype
MGI:5141498

cx3

• Allelic Composition: Cav1^tm1.1Aia/Cav1^tm1.1Aia; crsp/crsp
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * FVB

reproductive system

increased endometrial gland number ( J:174719 )

♀ • mice exhibit an increase in the number of endometrial glands compared with wild-type mice

enlarged endometrial glands ( J:174719 )

♀

ovary cyst ( J:174719 )

♀ • in 8% of mice

uterus cyst ( J:174719 )

♀ • in 62% of mice

neoplasm

neoplasm ( J:174719 )

N • mice do not develop endometrial cancer or metastases

endocrine/exocrine glands

increased endometrial gland number ( J:174719 )

♀ • mice exhibit an increase in the number of endometrial glands compared with wild-type mice

enlarged endometrial glands ( J:174719 )

♀

ovary cyst ( J:174719 )

♀ • in 8% of mice

growth/size/body

ovary cyst ( J:174719 )

♀ • in 8% of mice

uterus cyst ( J:174719 )

♀ • in 62% of mice

Genotype
MGI:5141500

cx4

• Allelic Composition: Cav1^tm1.1Aia/Cav1^tm1.1Aia; crsp/+
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * FVB

reproductive system

reproductive system phenotype ( J:174719 )

N • female mice are fertile

increased endometrial gland number ( J:174719 )

♀ • mice exhibit an increase in the number of endometrial glands compared with wild-type mice

enlarged endometrial glands ( J:174719 )

♀

ovary cyst ( J:174719 )

♀ • in 4% of mice

uterus cyst ( J:174719 )

♀ • in 55% of mice

neoplasm

neoplasm ( J:174719 )

N • mice do not develop endometrial cancer or metastases

endocrine/exocrine glands

increased endometrial gland number ( J:174719 )

♀ • mice exhibit an increase in the number of endometrial glands compared with wild-type mice

enlarged endometrial glands ( J:174719 )

♀

ovary cyst ( J:174719 )

♀ • in 4% of mice

growth/size/body

ovary cyst ( J:174719 )

♀ • in 4% of mice

uterus cyst ( J:174719 )

♀ • in 55% of mice

Genotype
MGI:3603529

cx5

• Allelic Composition: Rxfp2^tm1Aia/crsp
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * FVB/N

cellular

azoospermia ( J:79124 )

♂ • absence of spermatids and mature sperm

reproductive system

azoospermia ( J:79124 )

♂ • absence of spermatids and mature sperm

small testis ( J:79124 )

♂

bilateral cryptorchism ( J:79124 )

♂ • bilaterally undescended testis located in the high intraabdominal position

arrest of spermatogenesis ( J:79124 )

♂

abnormal gubernaculum morphology ( J:79124 )

• extended gubernaculum

absent male inguinal canal ( J:79124 )

♂ • inguinal canal fails to form

male infertility ( J:79124 )

♂

endocrine/exocrine glands

small testis ( J:79124 )

♂

bilateral cryptorchism ( J:79124 )

♂ • bilaterally undescended testis located in the high intraabdominal position

skeleton

abnormal gubernaculum morphology ( J:79124 )

• extended gubernaculum

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cryptorchidism		DOID:11383	OMIM:219050	J:79124