Phenotypes associated with this allele

• Allele Symbol: Patz1^tm1Pchi
• Allele Name: targeted mutation 1, Paolo Chieffi
• Allele ID: MGI:3795851
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Patz1^tm1Pchi/Patz1^tm1Pchi	involves: C57BL/6J	MGI:5449604
hm2	Patz1^tm1Pchi/Patz1^tm1Pchi	Not Specified	MGI:3797141
ht3	Patz1^tm1Pchi/Patz1^+	involves: C57BL/6J	MGI:5449603

Genotype
MGI:5449604

hm1

• Allelic Composition: Patz1^tm1Pchi/Patz1^tm1Pchi
• Genetic Background: involves: C57BL/6J

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:190572 )

• some mice die between E12.5 and E18.5

embryonic lethality during organogenesis, incomplete penetrance ( J:190572 )

• some mice die between E12.5 and E18.5

nervous system

abnormal embryonic neuroepithelium morphology ( J:190572 )

• the neuroepithelium of the isthmus and prospective cerebellum remains apart caudally

• however, they are fused ventrally

incomplete rostral neuropore closure ( J:190572 )

• in mice with exencephaly

abnormal brain morphology ( J:190572 )

• in mice with and without exencephaly

• however, the most caudal region of the hindbrain and pattern of folding are normal

decreased brain size ( J:190572 )

• post-weaning

enlarged brain ventricles ( J:190572 )

• with reduced nervous tissue around the ventricular cavities, particularly at the level of the telencephalon and diencephalon

abnormal choroid plexus morphology ( J:190572 )

• hypoplastic at the fourth ventricle

abnormal diencephalon morphology ( J:190572 )

• less pronounced

abnormal hindbrain morphology ( J:190572 )

• a tongue of cell projects from the midline (median sulcus) of the floor of the rhomboencephalon within the ventricular cavity, extending rostrally to the region of the mesencephalon

abnormal embryonic/fetal subventricular zone morphology ( J:190572 )

• less pronounced ganglionic eminence

exencephaly ( J:190572 )

• in 4 of 15 mice at E13.5

cardiovascular system

abnormal descending aorta morphology ( J:190572 )

• descending aorta located towards the right of the midline in 5 of 15 mice

abnormal cardiac outflow tract development ( J:190572 )

transposition of great arteries ( J:190572 )

• malformation of the great vessels exiting the ventricular chambers of the heart

embryo

abnormal embryonic neuroepithelium morphology ( J:190572 )

• the neuroepithelium of the isthmus and prospective cerebellum remains apart caudally

• however, they are fused ventrally

incomplete rostral neuropore closure ( J:190572 )

• in mice with exencephaly

cellular

abnormal cell cycle ( J:190572 )

• mouse embryonic fibroblasts exhibit decreased entrance into S phase with increased cells in G0/G1 and G2/M phase compared with wild-type cells

decreased fibroblast proliferation ( J:190572 )

• mouse embryonic fibroblasts

early cellular replicative senescence ( J:190572 )

• in mouse embryonic fibroblasts

growth/size/body

decreased body size ( J:190572 )

decreased body weight ( J:190572 )

postnatal growth retardation ( J:190572 )

decreased fetal size ( J:190572 )

• slight at E15.5 in most mice

Genotype
MGI:3797141

hm2

• Allelic Composition: Patz1^tm1Pchi/Patz1^tm1Pchi
• Genetic Background: Not Specified

reproductive system

azoospermia ( J:133515 )

♂ • mice lack spermatids and spermatozoa due to decreased proliferation of spermatogonia

abnormal spermatogonia proliferation ( J:133515 )

♂ • spermatogonia proliferation is reduced due to decreased cell division and increased apoptosis

abnormal seminiferous tubule morphology ( J:133515 )

♂ • many tubules exhibit cystic dilations with lack of cellular components and few spermatogonia and Sertoli cells

small seminiferous tubules ( J:133515 )

♂

increased Leydig cell number ( J:133515 )

♂

small testis ( J:133515 )

♂

decreased testis weight ( J:133515 )

♂

arrest of spermatogenesis ( J:133515 )

♂

female infertility ( J:133515 )

♀

male infertility ( J:133515 )

♂

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:133515 )

♂ • many tubules exhibit cystic dilations with lack of cellular components and few spermatogonia and Sertoli cells

small seminiferous tubules ( J:133515 )

♂

increased Leydig cell number ( J:133515 )

♂

small testis ( J:133515 )

♂

decreased testis weight ( J:133515 )

♂

cellular

azoospermia ( J:133515 )

♂ • mice lack spermatids and spermatozoa due to decreased proliferation of spermatogonia

abnormal spermatogonia proliferation ( J:133515 )

♂ • spermatogonia proliferation is reduced due to decreased cell division and increased apoptosis

Genotype
MGI:5449603

ht3

• Allelic Composition: Patz1^tm1Pchi/Patz1⁺
• Genetic Background: involves: C57BL/6J

cellular

increased fibroblast proliferation ( J:190572 )

• mouse embryonic fibroblasts