Phenotypes associated with this allele

• Allele Symbol: Insl3^tm1Imad
• Allele Name: targeted mutation 1, Ibrahim M Adham
• Allele ID: MGI:2661997
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Insl3^tm1Imad/Insl3^tm1Imad	involves: 129	MGI:2662181
hm2	Insl3^tm1Imad/Insl3^tm1Imad	involves: 129/Sv * CD-1	MGI:2662000
cx3	Ar^Tfm/Y Insl3^tm1Imad/Insl3^tm1Imad	involves: 129/Sv * CD-1 * STOCK Eda^Ta	MGI:2662011

Genotype
MGI:2662181

hm1

• Allelic Composition: Insl3^tm1Imad/Insl3^tm1Imad
• Genetic Background: involves: 129

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

endocrine/exocrine glands

cryptorchism ( J:83429 )

♂

reproductive system

cryptorchism ( J:83429 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cryptorchidism		DOID:11383	OMIM:219050	J:83429

Genotype
MGI:2662000

hm2

• Allelic Composition: Insl3^tm1Imad/Insl3^tm1Imad
• Genetic Background: involves: 129/Sv * CD-1

behavior/neurological

behavior/neurological phenotype ( J:83429 )

N • normal copulatory behavior

cellular

decreased germ cell number ( J:83429 )

• observed at 2 weeks of age

reproductive system

bilateral cryptorchism ( J:83429 )

♂ • bilateral cryptorchism with testes resting high in the abdomen

♂ • the right testicle of some males was in the contralateral position

♂ • lack of tight attachment to the inguinal region and regression of the cranial suspensory ligament

abnormal gametogenesis ( J:83429 )

decreased germ cell number ( J:83429 )

• observed at 2 weeks of age

abnormal spermatogenesis ( J:83429 )

♂ • absence of postmeiotic cells at 3 months of age

♂ • surgical correction of cryptorchism rescued spermatogenesis, indicating the observed defects may be due to increased the temperature of the abdominal cavity

abnormal gubernaculum morphology ( J:83429 )

• the gubernacular bulbs were similar to those wild-type prior to transabdominal descent of the testes (E15.5)

• the gubernacular bulbs are poorly developed relative to wild-type males and resemble those of wild-type females at E17.5

abnormal reproductive system development ( J:83429 )

• Mullerian duct derivatives were absent

male infertility ( J:83429 )

♂ • male infertility, however female fertility was normal as females produced litters of normal size and exhibited normal oestrus cylces

endocrine/exocrine glands

bilateral cryptorchism ( J:83429 )

♂ • bilateral cryptorchism with testes resting high in the abdomen

♂ • the right testicle of some males was in the contralateral position

♂ • lack of tight attachment to the inguinal region and regression of the cranial suspensory ligament

skeleton

abnormal gubernaculum morphology ( J:83429 )

• the gubernacular bulbs were similar to those wild-type prior to transabdominal descent of the testes (E15.5)

• the gubernacular bulbs are poorly developed relative to wild-type males and resemble those of wild-type females at E17.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cryptorchidism		DOID:11383	OMIM:219050	J:83429

Genotype
MGI:2662011

cx3

• Allelic Composition: Ar^Tfm/Y; Insl3^tm1Imad/Insl3^tm1Imad
• Genetic Background: involves: 129/Sv * CD-1 * STOCK Eda^Ta

reproductive system

abnormal female reproductive system morphology ( J:83429 )

♀ • Mullerian duct derivatives were absent

abnormal gubernaculum morphology ( J:83429 )

♂ • there is no tight attachment of the testes to the inguinal region

abnormal male reproductive system morphology ( J:83429 )

♂

bilateral cryptorchism ( J:83429 )

♂ • bilateral cryptorchism with testes situated adjacent to the kidneys

♂ • lack of tight attachment to the inguinal region

♂ • testes were attached to the dorsal abdominal wall by well developed cranial suspsensory ligaments

absent epididymis ( J:83429 )

♂ • the epididymis was absent

absent vas deferens ( J:83429 )

♂ • the vas deferens was absent

abnormal secondary sex determination ( J:83429 )

♂

male pseudohermaphroditism ( J:83429 )

♂ • the male external and internal genitalia are not virilized

endocrine/exocrine glands

bilateral cryptorchism ( J:83429 )

♂ • bilateral cryptorchism with testes situated adjacent to the kidneys

♂ • lack of tight attachment to the inguinal region

♂ • testes were attached to the dorsal abdominal wall by well developed cranial suspsensory ligaments

skeleton

abnormal gubernaculum morphology ( J:83429 )

♂ • there is no tight attachment of the testes to the inguinal region

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cryptorchidism		DOID:11383	OMIM:219050	J:83429